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Clinical Genetics - 2005

212 articles | Last updated: 2025-12-03 14:12:56
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Article Title Cauc. White Euro. Other Phrases Used
T A T A T A T A
Clinical Genetics: Basic Principles
An Approach to Neuromuscular Diseases of Children
Neurodegenerative Disorders: A Workable Solution
Glycogen Storage Disease
Wilson\'s Disease
Nutritional Perspectives of Inborn Errors of Metabolism
Diagnosis of Genetic Diseases: Rational Guidelines
A Child with a Chromosomal Aberration (Down Syndrome, Turner Syndrome, Klinefelter Syndrome)
Novel Therapy for Genetic Disorders: Current Status and Promise for the Future
Pharmacogenetics
Approach to Inborn Errors of Metabolism in a Newborn
Mental Retardation: A Clinician\'s Perspectives
Approach to a Malformed Infant
Approach to Short Stature
Genetic Counseling
Neonatal Screening for Genetic Disorders
Ocular Examination: A Window to Genetic Diagnosis
An Approach to Ambiguous Genitalia
Coarse Facies: Diagnostic Protocol
Inhibin A is a maternal serum marker for Down's syndrome early in the first trimester
Living with Marfan syndrome: coping with stigma
Is reduced CAG repeat length in androgen receptor gene associated with risk of prostate cancer in Indian population?
Chromosomal changes in prostate cancer: A fluorescence in situ hybridization study
Simultaneous identification of chromosomes 18, X and Y in uncultured amniocytes by using multi-primed in situ labelling technique
Corrigendum
Expressing the nature of quantitative traits
Expressing the nature of quantitative traits
Subject index
De novoα-actin mutations in monozygotic twins
Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland
Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer
Detection of hemizygosity in Hermansky - Pudlak syndrome by quantitative real-time PCR
Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testing ✓
Introduction to Social and Behavioral Research in Genetics
Mutation analysis of Wilson disease in the Spanish population - identification of a prevalent substitution and eight novel mutations in the ATP7B gene
Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease
A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides
Expressing the nature of quantitative traits
Expressing the nature of quantitative traits
LMNA mutation position predicts organ system involvement in laminopathies
DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy
Severe autosomal dominant upper‐limb mesomelic dysplasia: report of a second family
Author index
In Memoriam
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris
Familial carpal tunnel syndrome: further evidence for a genetic contribution
Two clinical forms of glycogen‐storage disease type II in two generations of the same family
Further evidence for epigenetic influence of <i>MECP2</i> in Rett, autism and Angelman's syndromes
Initial screening transferrin saturation values, serum ferritin concentrations, and<i>HFE</i>genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study ✓
Genetic counseling for mental illness: goals resemble counseling goals for other common conditions
Commentary on Duncan and Delatycki, ‘Predictive genetic testing in young people for adult onset conditions: where is the empiric evidence?
Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders
Multiple pathways lead to MeCP2 in the aetiology of autism spectrum‐associated neurodevelopmental disorders
Germline <i>MSH2</i> and <i>MLH1</i> mutational spectrum including large rearrangements in HNPCC families from Poland (update study) ✓ ✓ Polish population; Polish HNPCC kindreds; 'particular ethnic groups'
Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies
Adams–Oliver syndrome: clinical description of a four‐generation family and exclusion of five candidate genes
Authors' response to ‘Genetic counseling for mental illness: goals not unlike counseling goals for other common conditions’ by Barbara Bowles Biesecker
Do other methyl‐binding proteins play a role in autism?
<i>CD36</i> expression and its relationship with obesity in blood cells from people with and without Prader–Willi syndrome
Ultrasound detection of placental insufficiency in women with ‘unexplained’ abnormal maternal serum screening results
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
Detection of human chromosomal abnormalities using a new technique combining 4′,6‐diamidino‐2‐phenyl‐indole staining and image analysis
Multiplex ligation‐dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics
Functional variants of the lipoprotein lipase gene and the risk of preeclampsia among non‐Hispanic Caucasian women ✓ ✓ ✓ ✓ non-Hispanic
Altered gene silencing and human diseases
Identification of a novel <i>TGFBR2</i> gene mutation in a Korean patient with Loeys–Dietz aortic aneurysm syndrome; no mutation in <i>TGFBR2</i> gene in 30 patients with classic Marfan's syndrome
Molecular genetics of the early development of hindbrain serotonergic neurons
An optimized DHPLC protocol for molecular testing of the <i>EXT1</i> and <i>EXT2</i> genes in hereditary multiple osteochondromas
Two Swedish founder <i>MSH6</i> mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome ✓ ✓ Swedish
Pachydermoperiostosis: an update
Three‐allele risk haplotype of <i>ENPP1</i> links obesity to type 2 diabetes risk
Endosomal damage has gone to our heads
CDKL5 and MeCP2: partners in Rett pathogenesis
Split Hand Foot Malformation (SHFM)
Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
Genetic screening for colon cancer
The association between SNPs in the <i>MHC2TA</i> promoter and immune‐related human diseases
Tetra‐amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes
Taking out the trash: dynein mutations in autophagy and neurodegenerative disorders
Analysis of <i>PINK1</i> in Asian patients with familial parkinsonism ✓ Asian
Bilateral anophthalmia and brain malformations caused by a 20‐bp deletion in the <i>SOX2</i> gene
Blepharophimosis and bilateral Duane syndrome associated with a <i>FOXL2</i> mutation
Expansion of an intermediate allele of the <i>FMR1</i> gene in only two generations
An analysis of <i>PAX1</i> in the development of vertebral malformations
<i>COMMD1 (MURR1)</i> as a candidate in patients with copper storage disease of undefined etiology
Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations
<i>GJB2</i> gene mutations in Slovak hearing‐impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis ✓
Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C‐terminus <i>CFTR</i> mutation
Evidence for deletion of 9q as a two‐step process in chronic myeloid leukemia
Allelic heterogeneity of the carbohydrate sulfotransferase‐6 gene in patients with macular corneal dystrophy
Genetic diagnosis of <i>PLP</i> gene duplications/deletions in patients with Pelizaeus–Merzbacher disease*
Recent insights into the Smith–Lemli–Opitz syndrome
Spectrum of mutations in the Wilson disease gene (<i>ATP7B</i>) in the Bulgarian population
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position‐effect mutations: case report and review of the literature
Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations
Polymorphisms in the apolipoprotein A5 (<i>APOA5</i>) gene and type III hyperlipidemia
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an <i>SLC6A8</i> mutation
Preferences of cardiologists and clinical geneticists for the future organization of genetic care in hypertrophic cardiomyopathy: a survey
Human syndromes with congenital patellar anomalies and the underlying gene defects
Frequency of truly cryptic subtelomere abnormalities – a study of 534 patients and literature review
Discrepancies in upper and lower limb patterning in split hand foot malformation
Recurrent trisomy 21: four cases in three generations
Subtelomeric chromosome aberrations: still a lot to learn
Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family ✓ ✓ xanthochroi peoples of Northern Europe; Swedish family
Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle
Predictive genetic testing in young people for adult‐onset conditions: Where is the empirical evidence?
Gene therapy provides hope for the treatment of arthritis
Coagulating evidence for a new genetic link to drug responsiveness to warfarin therapy
The hemoglobinopathies and malaria
Population history and its impact on medical genetics in Quebec ✓ ✓ French-Canadian; French settlers
A new Marfan‐like syndrome caused by perturbed transforming growth factor‐β signaling
Got NGF? Promising gene therapy results in Alzheimer's disease
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation ✓ ✓ Spanish patients
Psychological functioning in African American women at an increased risk of hereditary breast and ovarian cancer ✓ ✓ African American women
Sir Archibald Garrod and Alkaptonuria –‘story of metabolic genetics’
Identification of 25 new mutations in 40 unrelated Spanish Niemann‐Pick type C patients: genotype‐phenotype correlations ✓ ✓ Spanish
An exploratory comparison of genetic counselling protocols for HNPCC predictive testing
Silent, but deadly: epigenetic control of ID4 in leukemia
Association of repeat polymorphisms in the estrogen receptors α, β, and androgen receptor genes with knee osteoarthritis ✓ ✓ Greek descent
Erratum
Response to Biesecker and Johnston
TB or not TB? <i>Ipr1</i> answers the question
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000–2005
‘Indirect’ BRCA1/2 testing. A useful approach in hereditary breast and ovarian cancer families without a living affected relative
Novel genomic insertion–deletion in <i>MLH1</i>: possible mechanistic role for non‐homologous end‐joining DNA repair
A novel locus for autosomal dominant hereditary gingival fibromatosis, GINGF3, maps to chromosome 2p22.3‐p23.3
Localization of a novel autosomal recessive non‐syndromic hearing impairment locus <i>DFNB55</i> to chromosome 4q12‐q13.2
Copper‐replacement treatment for symptomatic Menkes disease: ethical considerations
Syndromic and non‐syndromic GLI3 phenotypes
A polymorphism in the apolipoprotein A5 gene is associated with weight loss after short‐term diet
Noonan‐like syndrome mutations in <i>PTPN11</i> in patients diagnosed with cherubism
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation
A new mutation linked to atrial septal defect
An interaction between the <i>Taq</i>IB polymorphism of cholesterol ester transfer protein and smoking is associated with changes in plasma high‐density lipoprotein cholesterol levels in Turks ✓ ✓ Turks
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss
Rare SP‐A alleles and the SP‐A1‐6A<sup>4</sup> allele associate with risk for lung carcinoma
Identification of novel <i>TYR</i> and <i>TYRP1</i> mutations in oculocutaneous albinism
Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G‐banding, fluorescent <i>in situ</i> hybridization, confirmatory P1 artificial chromosome fluorescent <i>in situ</i
Clinical and molecular characteristics of hereditary non‐polyposis colorectal cancer families in Southeast Asia
Two novel <i>CLN6</i> mutations in variant late‐infantile neuronal ceroid lipofuscinosis patients of Turkish origin ✓ ✓ Turkish (Turkish origin, Turkish patients, Turkish vLINCL)
Analysis of <i>GJB2</i> mutation: evidence for a Mediterranean ancestor for the 35delG mutation
How lay people respond to messages about genetics, health, and race
BBS4 interacts with PCM1
Ciliary dysfunction in the Senior–Løken syndrome
A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11
Sitosterolaemia in Switzerland: molecular genetics links the US Amish‐Mennonites to their European roots ✓ ✓ ✓ European roots; Amish‐Mennonite
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart‐hand syndrome?
Genetic regulation of stem cell origins in the mouse embryo
Introduction to Social and Behavioural Research in Genetics
Common inactivating mutations in PCSK9 cause low LDL cholesterol
Is mitochondrial dysfunction a unifying feature of the metabolic syndrome?
A heavy cross (over) to bear
Consanguineous marriages in Jordan: why is the rate changing with time?
X‐linked mental retardation: further lumping, splitting and emerging phenotypes
Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this <i>Cystic Fibrosis Transmembrane Conductance Regulator</i> mutation does not cause c
Communication about genetic testing in families of male BRCA1/2 carriers and non‐carriers: patterns, priorities and problems
Demented flies? using <i>Drosophila</i> to model human neurodegenerative diseases
Analysis of <i>CRELD1</i> as a candidate 3p25 atrioventicular septal defect locus (<i>AVSD2</i>)
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome
Corrigendum
Refinement of the chromosome 16 locus for benign familial infantile convulsions ✓ ✓ Dutch families
Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer
Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre‐mutation: FXTAS and beyond
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3‐qter
Reproductive decision making before and after predictive testing for Huntington's disease: an Australian perspective ✓ recent European study
Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder
TPH2: an answer for unipolar depression?
The molecular basis of variation in human color vision
Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?
X‐linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the <i>ABCD1</i> gene in 80 patients. Improvement of genetic counseling in 162 relative females ✓ ✓ Spanish population
X‐linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths
Identification and molecular characterization of 18 novel mutations in the <i>ATP7B</i> gene from Indian Wilson disease patients: genotype
Looping out links Rett syndrome with loss of imprinting error
Osteoarthritis? Try asporin
<i>HJV</i> gene mutations in European patients with juvenile hemochromatosis ✓ European patients; patients from central parts of Europe; JH patients from central parts of Europe;
Molecular analysis of non‐syndromic preaxial polydactyly: preaxial polydactyly type‐IV and preaxial polydactyly type‐I
Pendred's syndrome and non‐syndromic DFNB4 deafness associated with the homozygous T410M mutation in the <i>SLC26A4</i> gene in siblings
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation
Corrigendum
Thrombosis in autoimmune disease: MBL2 genotyping identifies at‐risk people
Association of <i>COL1A2</i>, <i>COL2A1</i> and <i>COL9A1</i> and primary osteoarthritis in a founder population
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with<i>de novo</i>cryptic microdeletions involving 5p15.2 and 3p24.3‐25 detected using whole genomic array CGH
A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients
LARALink: a web application for cytogenetic linkage analysis
Xp22.3 microdeletion including <i>VCX‐A</i> and <i>VCX‐B1</i> genes in an X‐linked ichthyosis family: no difference in deletion size for patients with and without mental retardation
The <i>ZIC</i> gene family in development and disease
Juvenile myoclonic epilepsy, calcium and the EF hand of death
Identification of germline <i>BRCA1</i> and <i>BRCA2</i> genetic alterations in Greek breast cancer moderate‐risk and low‐risk individuals – correlation with clinicopathological data ✓ ✓ Greek ancestry; Greek population
Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin‐X mutations
Inherited microdeletions that give rise to Beckwith–Wiedemann syndrome
The I1307K APC mutation in a high‐risk clinic setting: a follow‐up study ✓ ✓ Jewish
Genetic variants of frizzled‐4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity
Novel mutations in the <i>calpain 3</i> gene in Germany
A search for the gene(s) predisposing to idiopathic clubfoot
Myocilin gene implicated in primary congenital glaucoma ✓ ✓ Indian
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2 ✓ ✓ two Arab families
<i>COH1</i> analysis and linkage study in two Japanese families with Cohen syndrome
Beating congenital heart defects with embryonic stem cells
A common mutation in <i>IVD</i> associated with asymptomatic isovaleric acidemia: implications for newborn screening
Cardiac involvement in Emery–Dreifuss muscular dystrophy
Germline mosaicism in Rett syndrome identified by prenatal diagnosis
Corrigendum
Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome
Inclusions to the rescue? Neuroprotective role for huntingtin inclusions in HD
The developing limb and the control of the number of digits
Higher resolution solutions for mapping the mystery of idiopathic intellectual disability
A new frontier for fetal diagnosis using genomic CGH microarrays
The vast array of opportunity for genomic discovery in human genetic disorders