| Subject Index |
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| Mutation in the CSB gene in a patient with Cerebro-Oculo-Facio-Skeletal syndrome |
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| Evaluating data from newborn screening programs - Georgia, 1998 |
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| Detection of a de novo mutation in a family with SMA Type I: The importance of dosage testing |
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| Mohr-Tranebjaerg Syndrome is an X-linked Recessive Disorder Characterized by Mitochondrial Dysfunction Associated with Neuronal Cell Death |
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| The molecular genetics of muscular dystrophy |
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| THE ROLE OF FETAL TELEMEDICINE IN OBSTETRIC ULTRASONOGRAPHY |
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| Adult Genetic Screening: Are we ready for hemochromatosis? |
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| A retrospective review of neurobehavioral and psychosocial issues in adults with putative Sotos syndrome |
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| Familial aortic aneurysms |
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| Lethal Pallister-Killian syndrome and Fryns syndrome: diagnostic considerations |
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| An unexpected female patient within a classical Lesch-Nyhan family |
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| Molecular analysis of chromosome 6p rearrangement in retinoblastoma |
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| Prenatal and post-mortem features of a case of Ritscher-Schinzel syndrome |
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| poster listings |
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| Genetics and Public Health in 2121 Century: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Discease? |
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| Is Assortative Mating the Cause for the High Frequency of Connexin 26 (Cx 26) Deafness? |
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| Concordance among monozygotic and dizygotic twins from a population-based sample for self-reported atopic triad, syndrome x, and psychiatric conditions |
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| mission statement, CMEs and CEUs |
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| Clinical presentation and management in children with mitochondria) disorders |
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| What's new in newborn screening? |
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| Connexin-26 deafness in the United States: Are we ready for the next Millennium? |
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| Focal abdominal wall hernias and pre-axial toe polydactyly define distinct phenotypes and etiologies for infants of diabetic mothers and the VATER Association |
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| An Integrated BAC/PAC Resource for identifying chromosomal abnormalities in solid tumors |
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| FGFR3 Mutations K650N and K650Q Cause Hypochondroplasia |
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| Knowledge and attitudes about carrier testing for hemophilia A among patients and their relatives |
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| Minimal Phenotypic Findings of Down Syndrome in a Patient with True Trisomy 21 |
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| Identification of mitochondria) mutation (tRNAlys) & genetic counseling in a family with MERRF syndrome |
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| Clinical and Molecular Studies in a large unique family with Limb-Girdle Muscular Dystrophy and Paget Disease of Bone |
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| A close relationship to Smith-Lemli-Opitz (RSH) patients positively correlates with an increased incidence of high cholesterol, late-onset diabetes, and infertility; and negatively correlates with alc |
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| BRCA testing uptake and participation in ovarian cancer prevention in women at risk for an inherited ovarian cancer susceptibility |
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| Natural history of the Adams-Oliver Syndrome: A report of progressive Central and Peripheral nervous system involvement in a mother and son |
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| Acampomelic campomelic dysplasia with SOX9 mutation |
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| Isochromosome 9p and choroid plexus papilloma: Coincidence or cause? |
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| Ring Chromosome 14 Syndrome: Prenatal diagnosis of two cases with 45,XY,-14/46,XY,r(14)(p11.2q32) |
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| Familial Report of Duplication 9p Syndrome |
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| Public acceptance of an interactive kiosk to educate about folic acid to prevent neural tube defects |
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| Genetic risk assessment in women over 35: natural pregnancies compared to assisted reproductive technology pregnancies |
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| Mitochondria, DNA mutations in chilean patients with Leber Hereditary Optic Neuropathy (LHON) |
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| The HFE 5569A allele defines a low-risk haplotype for hereditary hemochromatosis |
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| Prune belly syndrome in a patient with only a mildly distended bladder |
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| Evaluation of Prenatal Screening Program for Down Syndrome analysis of 96 cases of Down syndrome for last 10 years |
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| Congenital mesoblastic nephroma: perinatal, surgical and genetic features and associated 2D and 3D imaging |
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| Prenatal diagnosis of MIDAS/MLS syndrome associated with a deletion at Xp22.1 |
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| Prevalence of Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in Northwest Louisiana newborn population |
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| general information |
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| program information |
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| EXHIBITORS AS OF 2/1/00 |
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| invited speakers, moderators and program committee members |
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| Historical perspective of informed consent in ethics and the law |
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| The UCLA experience in developing protocols for informed consent |
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| Congenital Disorders of Glycosylation (CDG): Have you seen them? |
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| The Impact of Recombinant DNA on Inborn Errors of Metabolism |
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| One Clinician's View of Clinician/Researcher Interaction |
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| Overview of telegenetics |
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| Experience with Telemedicine Genetic Services at the Medical College of Georgia |
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| Genetic counseling and video phones |
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| Implementing Telemedicine & Principles, Practices, and Issues – A Perspective from Georgia |
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| The Specialty of Genetics: Communicating Our Value to Medical Colleagues |
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| Options and Challenges in the Treatment of Mitochondria) Disease |
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| Prenatal dysmorphology: Evaluation and management |
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| Application of Tandem Mass Spectrometry to Newborn Screening |
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| Maternal complications and sudden infant death in families with mutations in mitochondrial trifunctional protein |
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| Evaluation and management of urea cycle disorders using stable isotope infusions |
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| Absence of congemla1 myotomc dystrophy (CDM) in a baby wth 1000 DMPK CTG repeats born afler a slblmg with CDM |
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| The A986S polymorphism of the calcium-sensing receptor (CASR) gene is a significant contributor to inter-individual variability of serum calcium |
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| Trends in a clinical genetics program for adults |
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| Cyto 2000 – A Collaborative study for the evaluation of blood chromosome mosaicism |
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| Are we making a difference? Genetics in Undergraduate Medical Education |
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| Expanded metabolic screening utilizing tandem mass spectrometry: The Massachusetts experience in the first year |
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| Newborn screening for sickle cell disease: assessing program effectiveness |
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| A Practical Theory-Based Method to Improve Lay Decision-Making for Genetic Testing |
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| MTHFR mutation and a NOS3 polymorphism influence blood pressure characteristics in preeclampsia |
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| Severe Conradi-Hünermann Syndrome (CDPX2) is a phenocopy of peroxisomal Rhizomelic Chondrodysplasia Punctata (RCDP) |
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| Methylmalonic aciduria, hyperhomocysteinemia, hematologic and/or neurologic abnormalities in 3 infants born to mothers with asymptomatic B12 deficiency |
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| RadioHPLC profiles of acyl-camitines improve detection of mild Glutaric Acidemia type II and Short Chain Acyl-CoA Dehydrogenase deficiency |
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| Vitamin B 12-responsive methylmalonic aciduria due to a new inborn error of adenosylcobalamin synthesis, cblH |
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| Clinical and Molecular diagnosis of Nager syndrome in a preterm Infant (27 week gestation) – A case report |
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| BRCAI and BRCA2 Mutation Analysis in At-risk African-American Families: Results and Implications |
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✓ |
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African-American |
| Mitochondrial disease and disorders of energy metabolism: A recognizable pattern of systemic disease |
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| Clinical Findings in mitochondnal neurogastrolntestinal encephalomyopathy syndrome (MNGIE) |
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| The Scapuloiliac Dysostosis (Kosenow Syndrome) Spectrum – Two Additional Cases |
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| Retinitis pigmentosa, growth hormone deficiency and acromelic skeletal dysplasia in two male siblings: possible familial RHYNS syndrome |
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| Cervical spine anomalies in Weaver syndrome; a diagnostic clue in adults |
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| Evaluation of telemedicine use for clinical genetics services in Iowa |
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| Microgastria in the Genetic Clinic |
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| Ovarian Cancer Screening in Women from Hereditary Breast/Ovarian Cancer Families |
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| Ruvalcaba Syndrome (a rare progeroid syndrome). A new case and review of the literature |
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| A new genetic syndrome among the Old Order Amish of Smicksburg Pennsylvania |
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✓ |
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Old Order Amish |
| Unique skeletal dysplasia with cataracts, ataxia, learning disability and mild facial dysmorphism |
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| Anonychia and absence of distal phalanges in a patient with apparently balanced t(17;21)(q24.2;g11.2) |
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| Oral clefting, cartilaginous auricular malformations and other anomalies: A provisionally unique autosomal dominant syndrome |
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| Partial Monosomy of Chromosome 5 in 2 Male Siblings – Phenotypic Correlates |
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| Marden-Walker syndrome: case report and review |
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| Severe Saethre-Chotzen syndrome in an infant with a complex chromosome rearrangement |
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| Seckel syndrome phenotype in a live-born with ring 4/monosomy 4 chromosomal mosaicism |
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| An infant with trisomy 9 mosaicism and features of CHARGE association |
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| A third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15 |
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| Phenotypic recognition of maternal (mosaic) and paternal (segmental) isodisomy for chromosome 14 without a Robertsonian translocation |
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| DOUBLE TRISOMY IN SPONTANEOUS ABORTIONS—AN 11 YEAR REVIEW |
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| Can pericentric inversion and C-heterochromatin cause interchromosomal effect leading to an increased aneuploidy in sperm nuclei? |
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| FISH delineation of multiple chromosome abnormalities in a mentally retarded patient with severe chronic disabilities |
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| Smith-Magenis Syndrome Diagnosed at Birth |
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| Double and triple trisomy in spontaneous abortions: an older maternal age and earlier gestational age than seen in single trisomies |
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| Further clinical & cytogenetic delineation in Ip36 deletion syndrome |
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| Partial Monosomy 12p and Ring Chromosome 12 Mosaicism in a Male with Developmental Delay and Mild Dysmorphism |
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| The genetic counselor as a resource for families with a medical indication for cord blood banking |
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| An assessment of genetic knowledge and utilization among mental health care providers and consumers |
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| MCHB SPRANS Projects: Collaborative efforts to guide primary care providers to access and use medical genetic information electronically |
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| Ethical Issues Encountered in Establishment of the Texas Birth Defect Research Center (TBDRC) |
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| Visual presentations at 1998 ACMG meeting suggests insensitivity of geneticists to a common genetic disorder |
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| Attitudies reguarding genetic counseling issues of the pakistani population at Maimonides Medical Center in Brooklyn |
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| Patient perspectives on the process of informed consent for DNA testing |
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| Genetic counseling for mitochondrial disorders |
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| Constructing rapport in televideo genetic counseling |
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| Practical use of Three-Dimensional Imaging in Genetic Counseling: Patient Perception of Usefulness as a counseling tool |
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| Prenatal diagnosis of fragile X syndrome: identification of a male fetus mosaic for a premutation on chorionic villus sampling - management and follow-up |
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| Interactive web-based genetic screening questionnaires in a primary care and obstetrics practice: A pilot study |
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| Preconceived Ideas about Second Trimester Screening: a Guide for Counseling |
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| Low maternal serum estriol as a marker for steroid sulfatase deficiency |
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| X-Linked Corneal Dermoids Maps to Xq24-Xter |
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| Primary Ciliary Dyskinesia: A search for the responsible genes through linkage and candidate gene approaches |
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| The frequency and clinical significance of the S1235R mutation in the Cystic Fibrosis Transmembrane Conductance Regulator gene: results from a collaborative study |
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| A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with doparesponsive dystonia |
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| The locus for autosomal dominant renal Fanconi Syndrome maps to the long arm of chromosome 15 |
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| Genetic testing for Niemann-Pick Type C disease |
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| Is an elevated maternal serum uE3 MoM value in the second trimester associated with a poor pregnancy outcome? |
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| Prenatal diagnosis of otocephaly |
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| The extreme Spectrum of Pallister-Hall syndrome |
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| Cystic lymphangioma of the axilla and chest wall |
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| Recurrence of triploidy in a woman with low level 45,X mosaicism |
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| Characteristics of fetuses with polyhydramnios and abnormal chromosome study |
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| Do X- or Y-chromosome bearing spermatozoa competes with older eggs in human? |
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| session listings |
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| board and committee meetings |
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| Genetic mechanisms of cancer development |
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| Nramp proteins, susceptibility to infection and divalent cations transport |
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| Genetics and hearing loss |
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| The emerging and empowering roles of online mutual help groups in patient care |
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| CF population screening 2000: The end is near |
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| Gene Therapy and Futhure Directions in the Treatment of Cystic Fibrosis |
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| Precision and uncertainty in mitochondrial genetics: clinical approach and a parent's perspective |
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| Human telomere probes in clinical cytogenetics: probe characteristics, methods, applications and limitations |
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| Abnormal brain structure and function in adult males with isolated clefts of the lip and/or palate |
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| I don't want to hear you, but I'd like to see you |
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| Optimal cancer risk assessment program professional roles; analysis of 30 American centers |
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| Riboflavin responsive ethylmalonic encephalopathy in two Korean sibs |
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| Oculoauriculofrontonasal syndrome in a nine-month-old male |
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| A BRCA1 mutation carrier with three breast primaries and childhood ionizing radiation treatments: A possible gene/environment interaction |
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| Analysis of 70 adult patients referred for genetics evaluation |
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| Circadian rhythm abnormalities of melatonin and haploinsufficiency of COPS3 in Srnith-Magenis Syndrome |
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| Craniosynostosis, ectopia lentis and congenital heart defect: further delineation of an autosomal dominant syndrome with reduced penetrance |
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| Spondyloepimetaphyseal dysplasia with multiple joint dislocations |
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| A family with multiple chromosome anomalies |
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| Terminal deletion of 11q in two brothers: Clinical, cytogenetic, molecular genetic and counseling issues |
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| Proximal 6q deletion phenotype: findings in de novo interstitial deletion 6g14.1g15 |
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| The state of public health genetics in Rhode Island |
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| BRCA buccal immunoassay predicts BRCA1 and BRCA2 mutations |
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| Sonogram findings with Brachmann-de Lange syndrome |
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| Outcomes of a prenatal cytogenetic screening program in an urban state university medical center |
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| ACMG board of directors |
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| Orphan Genetic Disease – making testing a reality |
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| The genetics of resistance and susceptibility to HIV-1 infection |
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| Skeletal abnormalities/short bones |
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| Potential for clinical misdiagnosis of combined methylmalonic aciduria/homocysteinemia (MMA/HCYS) due to absence of acute metabolic derangement |
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| The clinical expression of Gaucher disease correlates with genotype: Data from 570 patients |
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| Aortic root dilatation complicates Ehlers-Danlos syndrome |
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| Neonatal cholestasis: A new presentation of X-linked adrenoleukodystrophy |
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| Unilateral congenital lymphedema with intestinal lymphangiectasia, elevated liver transaminases, and hypopigmentation |
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| Rubinstein-Taybi syndrome with hepatoblastoma |
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| Testing for the Jewish BRCA founder mutations in archived tissue |
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✓ |
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Jewish |
| Syndrome of ocular, skeletal & abdominal abnormalities |
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| Utility of both bone marrow and renal transplants in the management of individuals with Schimke immunooseous dysplasia |
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| Osteopetrosis, progressive sensorineural deafness, glaucoma, alopecia and cardiomyopathy in a 13 year old female: New syndrome or mild variant of YunisVaron syndrome? |
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| The molecular pathogenesis of Schmid metaphyseal chondrodysplasia |
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| Sudden death in Proteus syndrome |
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| Clinical manifestations of NF1 in African-Americans and Caucasians |
✓ |
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| Chlari I malformation associated with a P250R mutationv of FGFR3 |
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| Molecular and cytogenetic analysis of Y;1 familial translocation |
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| Chromosomal nosology in referred populations |
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| The public's quest for genetic information: The role of a telephone helpline |
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| Williams Syndrome: on the genetic basis of human cognition |
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| Association of G-protein β3 subunit C825T variant (Gβ3S) and heart valve abnormalities in obese patients treated with fenfuramine-phentermine |
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| CFTR Mutations in Chilean patients with cystic fibrosis |
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| THE CLINICAL SIGNIFICANCE OF ISOLATED FETAL ECHOGENIC BOWEL |
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| Long-term follow-up of amniocentesis |
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| The relationship between the Glu298Asp and intron 4 polymorphisms of endothelial nitric oxide synthase in an Hispanic population with preeclampsia |
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| Author Index for contributed papers |
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| CONFERENCE/MEETING ROOMS |
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| Meetings Calender |
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| Mitochondrial Diseases in Men and Mice |
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| march of dimes/colonel harland sanders award |
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| 45 CFR 46: Federal Regulations and Institutional Review Boards |
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| Genetics and Informed Consent: Process and Content at the Millennium |
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| Beyond the Human Genome Project: Genetics and Ethics, Human Nature and Society |
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| The Consumer's View of Research |
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| Mitochondrial Deafness |
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| Prenatal Dysmorphology – Additional Laboratory Evaluations |
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| Comparing satisfaction with clinical genetic services to other health services using a standardized survey, the CSQ-8© |
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| Sensitivity of multiple color spectral karyotyping assessed by small constitutional translocations |
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| Lack of a cardiac bulge in human growth disorganized embryos: evidence for cardiac malformation leading to pregnancy failure |
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| Impracticality and inefficiency of first trimester population screening for birth defects |
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| 2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency: a new inborn error of L-isoleucine metabolism |
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| The detection of carbohydrate deficient glycoprotein syndrome by capillary electrophoresis |
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| Correction of the Cystinotic Phenotype in Cultured Cells by an Aminoglycoside |
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| Say-Meyer syndrome: A new case with magnetic resonance imaging of the brain, cardiac abnormality and X-linked dominant inheritance pattern |
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| A new caw of hepatic glycogen snthase deficiency. biochemical findings and comparison with reported cases |
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| Autosomal recessive syndrome due to amazing consanguinity |
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| AREDYLD syndrome with focal segmental glomerulosclerosis |
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| Genetic study of two Tunisian Ehlers Danlos syndrome type VI |
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| Incidence and severity of pain in Stickler and Ehlers-Danlos syndromes |
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| A comparison of the Berlin and Gent Nosologies in the diagnosis of Marfan syndrome: the NIH experience |
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| Early clinical features of Angelman Syndrome in infants with chromosomal deletion of 15g11-q13 |
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| A Case of 46,XX African American male |
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| Electronic karyotype transmission |
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| Chromosome analysis of spermatozoa extracted from testes of men with non-obstructive azoospermia |
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| Zeroing-in-on breakpoint susceptibility regions on chromosomes in breast carcinoma |
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| Interphase Spectral FISH: Tailoring a diagnostic and minimal residual disease (MRD) assay for oncology |
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| Tandem duplication of bands g13.13g13.33 resulting in partial trisomy of long arm of chromosome 19 |
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| Maternal age specific chromosomal abnormalities at amniocentesis |
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| Severe growth retardation and limb anomalies in a boy with 47,XY,+r(7) and maternal uniparental disomy for chromosome 7 |
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| Tetraploidy in Prenatal Diagnosis: “culture artifact” or clinical diagnosis? |
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| Factors affecting the incidence of Down syndrome live births in Illinois from 1989 to 1997 |
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| BRCA genetic testing: where are physicians in the decision process? |
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| Prenatal genetic counseling by telemedicme: a feasibility study |
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| Sequence characterization of the –THAIallele of athalassemia and rapid detection using a single-tube multiplex-PCR assay |
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| Variant chromosome 1 reveals centromeric DNA sequences within the lqh region |
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| Genome-wide linkage study for ossification of the posterior longitudinal ligament of the spine reveals a major susceptibility locus on chromosome 21q |
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| A PATTERN ANALYSIS FOR ULTRASOUND ANOMALIES IN FETUSES WITH NORMAL KARYOTYPE |
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| Antenatal diagnosis of mixoploidy: a case report |
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| Prominent amnion-chorion separation between 13 and 15 weeks gestation is associated with increased risk for fetal chromosome abnormalities |
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| Fetal methotrexate syndrome |
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| Lessons from genetic discrimination |
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| College women's awareness and consumption of folic acid for the prevention of neural tube defects |
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| Patients' fear of genetic discrimination by health insurers: the impact of legal protections |
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| Fragile X full mutations are more similar in siblings than in unrelated patients: further evidence for a familial factor in CGG repeat dynamics |
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| Some major milestones and future directions |
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| Forward Motion: Strategic Plan |
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| A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome |
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| Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families |
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| Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene |
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| Genetics Resources on the Web (GROW) |
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| To the Editor |
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| To the Editor |
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| College News: American College of Medical Genetics |
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| Meetings Calendar |
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| A familial risk profile for osteoporosis |
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| The gap between practice and genetics education of health professionals: HuGEM survey results |
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| Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone |
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| Gender verification of female athletes |
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| Tandem mass spectrometry in newborn screening |
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| Meetings Calendar |
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| Contribution of different HFE genotypes to iron overload disease: a pooled analysis |
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| In Response |
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| ACMG recommendations for standards for interpretation of sequence variations |
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| The interactivity between the CFTR gene and cystic fibrosis would be limited to the initial phase of the disease |
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| Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening |
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| Erratum |
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| Meetings Calendar |
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| Clinical validation of genetic tests |
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| Heterotaxy: Associated conditions and hospital-based prevalence in newborns |
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| To the Editor |
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| Mammography behavior after receiving a negative BRCA1 mutation test result in the Ashkenazim: A Community-based study |
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✓ |
|
Ashkenazim |
| Molecular diagnosis and inborn errors of metabolism: A practitioner’s view |
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| College News: American College of Medical Genetics |
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| From the Editor’s Desk |
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| Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin |
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| Challenges in communicating genetics: A public health approach |
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| In memoriam |
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| Positions Available |
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| Congenital disorders of glycosylation: Have you encountered them? |
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| Informed consent for medical photographs |
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| Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome |
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| Positions Available |
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| Family history-taking in community family practice: Implications for genetic screening |
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| Some ethical implications of The Human Genome Project |
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| In Response |
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| Meetings Calendar |
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| Heterogeneity of late-infantile neuronal ceroid lipofuscinosis |
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| The GM2 gangliosidoses datanases: Allelic variation at the HEXA, HEXB, and GMWA gene loci |
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| Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation |
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| Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations: Test and Technology Transfer Committee |
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| Guidelines for expert witness testimony for the specialty of medical genetics: Social, Ethical and Legal Issues Committee, American College of Medical Genetics |
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| Author Index |
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| Outcomes analysis of verbal dyspraxia in classic galactosemia |
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| On the use of population-based registries in the clinical validation of genetic tests for disease susceptibility |
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| To the Editor |
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| Genetics testing for colon cancer: Joint statement of the American College of Medical Genetics and American Society of Human Genetics: Joint Test and Technology Transfer Committee Working Group |
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| Positions Available |
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| Dural ectasia in the Marfan syndrome: MR and CT findings and criteria |
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| Biochemical genetics: From mechanisms to diagnosis and management of genetic disease |
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| To the Editor |
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