| High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients |
|
|
|
|
|
|
|
|
|
| Carrier identification of X‐linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation |
|
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|
|
|
| Deciduous teeth in tuberous sclerosis |
|
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|
|
|
|
| Parental origin and mechanisms of formation of three eases of 12p tetrasomy |
|
|
|
|
|
|
|
|
|
| A three‐allelic polymorphic system in exon 12 of the LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population |
|
✓ |
|
|
|
|
✓ |
✓ |
Spanish population |
| Multifactorial inheritance of non‐syndromic macrocephaly |
|
|
|
|
|
|
|
|
|
| Medical Ethics:The right not to know—worthy of preservation any longer? An ethical perspective |
|
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|
|
| Poland sequence in two siblings suggesting an autosomal inheritance transmission |
|
|
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|
|
|
|
|
| <i>De novo</i> direct duplication 3 (p25→pter): a previously undescribed chromosomal aberration |
|
|
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|
|
|
| Neuroradiology and clinical aspects of Usher syndrome |
|
|
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|
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| Glycerol kinase deficiency in two brothers with and without clinical manifestations |
|
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|
|
| Discordant monozygotic twins with the Schimmelpenning‐Feuerstein‐Mims syndrome |
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|
|
| Report of a new case of axial mesodermal dysplasia complex |
|
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|
|
|
|
|
|
|
| Short Report on DNA Marker at Candidate Locus |
|
|
|
|
|
|
|
|
|
| DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications |
|
|
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|
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| Nonsyndromic X‐linked mental retardation: review and mapping of MRX29 to Xp21 |
|
|
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|
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|
|
| Association of genetic variation at the β‐fibrinogen gene locus and plasma fibrinogen evels; interaction between allele frequency of the G/A<sup>‐455</sup>polymorphism, age and smoking |
|
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|
|
| The Floating‐Harbor syndrome: two affected siblings in a family |
|
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|
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| Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia |
|
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|
|
| Desbuquois syndrome in an Arab Bedouin family |
|
|
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|
|
✓ |
✓ |
Arab Bedouin |
| FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure |
|
|
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|
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|
|
| Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome |
|
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|
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| Craniofacial morphology of the tricho‐dento‐osseous syndrome |
|
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|
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| Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient |
|
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|
|
|
|
| APC intragenic haplotypes in familial adenomatous polyposis |
|
|
|
|
|
|
✓ |
✓ |
Portuguese; other populations |
| Respiratory complications of Ehlers‐Danlos syndrome type IV |
|
|
|
|
|
|
|
|
|
| High incidence of pre‐excitation syndrome in Japanese families with Leber's hereditary optic neuropathy |
|
|
|
|
|
|
✓ |
✓ |
Finns, Finnish, Japanese, ethnic groups (Finland, Japan) |
| Insertion/deletion polymorphism in the angiotensin‐converting‐enzyme gene and blood pressure during ergometry in normal males |
|
|
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|
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|
|
| Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome |
|
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| Mutational screening of APP gene in patients with early‐onset Alzheimer disease utilizing mismatched PCR‐RFLP |
|
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|
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| Rothmund‐Thomson syndrome in siblings: evidence for acquired <i>in vivo</i> mosaicism |
|
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| Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle‐Wells syndrome? |
|
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|
|
| Wolcott‐Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11–12 |
|
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|
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| Jumping translocation in a phenotypically normal female |
|
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|
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| Benign external hydrocephalus in a boy with autosomal dominant microcephaly |
|
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|
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| An Avall polymorphism in the human apolipoprotein C‐II gene |
|
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|
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| Psychological and social impact of carrier screening for cystic fibrosis among pregnant women — a pilot study |
|
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|
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| Biliary malformation with renal tubular insufficiency in two male infants: third family report |
|
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|
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| Ehlers‐Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation |
|
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|
|
| Bloom's syndrome in a Turkish individual |
|
|
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|
|
✓ |
|
Turkish |
| Partial trisomy 6p due to maternal t(1;6) translocation |
|
|
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|
|
| Homozygous deletion of exon 18 leads to degradation of the lysosomal α‐glucosidase precursor and to the infantile form of glycogen storage disease type II |
|
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|
|
| Ataxia telangiectasia syndrome with B cell lymphoma |
|
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| Synpolydactyly (Syndactyly Type II) |
|
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| Erratum |
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| Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: clinical assessment |
|
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|
|
| An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes |
|
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|
|
| The phenotype of a 45, X male with a Y/18 translocation |
|
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|
|
| Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay |
|
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|
|
| Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders |
|
|
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|
|
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|
|
| Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis |
|
|
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|
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|
|
| Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel‐phocomelia syndrome? |
|
|
|
|
|
|
|
|
|
| Association analyses of <i>Nsi</i>I RFLP of human insulin receptor gene in hypertensives |
|
✓ |
|
|
|
|
|
|
|
| Genetic contributions to LDL‐C, Apo‐B and LDL‐C/Apo‐B ratio in a sample of Israeli offspring with a parental history of myocardial infarction |
|
|
|
|
|
|
|
|
|
| Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1‐and PKD2‐linked markers in Cypriot families |
|
|
|
|
|
|
✓ |
✓ |
Cypriot |
| Short Report on DNA Marker at Candidate Locus |
|
|
|
|
|
|
|
|
|
| UICC Symposium on Familial Cancer and Prevention Molecular Epidemiology: a New Strategy toward Cancer Control |
|
|
|
|
|
|
|
|
|
| Midline congenital anomalies: the estimated occurrence among American Indian and Alaska Native infants |
|
|
|
|
|
|
✓ |
✓ |
American Indian and Alaska Native |
| Exceptions to the rule: individuals with FAP specific CHRPE and mutations in exon 6 of the <i>APC</i> gene |
|
|
|
|
|
|
|
|
|
| Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus: unusual early clinical signs in Coffin‐Lowry syndrome |
|
|
|
|
|
|
|
|
|
| Lack of association of angiotensin‐converting enzyme (<i>ACE</i>). Gene insertion/deletion polymorphism with CAD in two Asian populations |
|
✓ |
|
|
|
|
|
|
|
| Deletion of the long arm of chromosome 6: two new patients and literature review |
|
|
|
|
|
|
|
|
|
| Molecular analysis of a Japanese family with Lesch‐Nyhan syndrome: identification of mutation and prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1 |
|
|
|
|
|
|
|
|
|
| Frequencies of five genetic polymorphisms in coronarographed patients and effects on lipid levels in a supposedly healthy population |
|
|
|
|
|
|
|
|
|
| Genomic distribution of 5‘ TTCCA 3’ repeat motif and its diagnostic potential in human Y‐chromosome‐related anomalies |
|
|
|
|
|
|
|
|
|
| Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease |
|
|
|
|
|
|
✓ |
✓ |
Spanish |
| Unbalanced karyotype, dup 14(q13‐q22), in a mother and her two children |
|
|
|
|
|
|
|
|
|
| Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome |
|
|
|
|
|
|
|
|
|
| <i>De novo</i> direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1) |
|
|
|
|
|
|
|
|
|
| DNA polymorphisms in linkage disequilibrium at the 3‘ end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease |
|
|
|
|
|
✓ |
|
|
European population |
| Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA |
|
|
|
|
|
|
|
|
|
| Genetic analysis of the glucose‐6‐phosphatase mutation of type la glycogen storage disease in a Chinese family |
|
✓ |
|
|
|
|
|
|
|
| Keipert syndrome in two brothers from Turkey |
|
|
|
|
|
|
|
|
|
| Life‐threatening cardiac involvement throughout life in a case of Costello syndrome |
|
|
|
|
|
|
✓ |
✓ |
Japanese |
| Clinical features in the Wiedemann‐Beckwith syndrome |
|
|
|
|
|
|
|
|
|
| Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary |
|
|
|
|
|
|
|
|
|
| Antley‐Bixler syndrome |
|
|
|
|
|
|
|
|
|
| Primed <i>IN Situ</i> labelling (PRINS) as a rational procedure for identification of marker chromosomes using a panel of primers differentially tagging the human chromosomes |
|
|
|
|
|
|
|
|
|
| A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women |
|
|
|
|
|
|
|
|
|
| Partial deletion of the long arm of chromosome 11: ten Japanese children |
|
|
|
|
|
|
|
|
|
| Further evidence of genetic heterogeneity in hereditary hydronephrosis |
|
|
|
|
|
|
|
|
|
| Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply |
|
|
|
|
|
|
|
|
|
| Unusual segregation of t(11;22) resulting from crossing‐over followed by 3:1 disjunction at meiosis I |
|
|
|
|
|
|
|
|
|
| Identification of a double mutation in the low‐density lipoprotein receptor gene causing familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Short sequence repeats in intron 2 of the insulin receptor gene among black and white South Africans |
|
|
✓ |
|
|
|
✓ |
|
black |
| A G<sup>‐1</sup>‐to‐A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| <i>De novo</i> 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia |
|
|
|
|
|
|
|
|
|
| A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip‐palate, exophthalmos and psychomotor retardation |
|
|
|
|
|
|
|
|
|
| The CF carrier status is not associated with a diminished self‐concept or increased anxiety: results of psychometric testing after at least 1 year |
|
|
|
|
|
|
|
|
|
| Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3) |
|
|
|
|
|
|
|
|
|
| Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen‐related disorders |
|
|
|
|
|
|
|
|
|
| A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality |
|
|
|
|
|
|
|
|
|
| A <i>Stu</i> I polymorphism in the human androgen receptor gene (AR) |
|
|
|
|
|
|
|
|
|
| A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly |
|
|
|
|
|
|
|
|
|
| Peripheral blood cell counts in infants with Down's syndrome |
|
|
|
|
|
|
|
|
|
| The spectrum of ocular features in the Williams‐Beuren syndrome |
|
|
|
|
|
|
|
|
|
| An Iranian‐Armenian LDLR frameshift mutation causing familial hypercholesterolemia |
|
|
|
|
|
|
✓ |
✓ |
Iranian‐Armenian ("Iranian‐Armenian ancestry" and "family of Iranian‐Armenian origin") |
| Determination of cystic fibrosis carrier frequency for Zuni native Americans of New Mexico |
|
✓ |
|
|
|
|
✓ |
✓ |
Zuni native Americans |
| Mild CF in a ΔF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes? |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Prenatal cystic fibrosis screening in a low‐risk population undergoing chorionic villus sampling for fetal karyotyping |
|
|
|
|
|
|
|
|
|
| Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain |
|
|
|
|
|
✓ |
✓ |
✓ |
among European populations; Spanish, Swiss and Norwegians |
| High levels of Lp(a) lipoprotein in a family ith cases of severe pre‐eclampsia |
|
|
|
|
|
|
|
|
|
| Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother |
|
|
|
|
|
|
|
|
|
| Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism |
|
|
|
|
|
|
|
|
|
| The evaluation of gonosomal mosaics: lymphocyte interphase nuclei analyzed by FISH |
|
|
|
|
|
|
|
|
|
| Molecular characterization of 21p‐variant chromosome |
|
|
|
|
|
|
|
|
|
| Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register |
|
|
|
|
|
|
|
|
|
| Agenesis of the corpus callosum in Schinzel‐Giedion syndrome associated with 47, XXY karyotype |
|
|
|
|
|
|
|
|
|
| A concealed penis mimicking penile agenesis in an infant with trisomy 13 |
|
|
|
|
|
|
|
|
|
| Short rib‐polydactyly syndrome in twins: Beemer‐Langer type with poly dactyly |
|
|
|
|
|
|
|
|
|
| Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation |
|
|
|
|
|
|
|
|
|
| Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit |
|
|
|
|
|
|
|
|
|
| Routine clinical application of the FRAXA <i>Pfu</i> PCR assay: limits and utility |
|
|
|
|
|
|
|
|
|
| Is intensive follow‐up for early detection of tumors effective in children with Beckwith‐Wiedemann syndrome? |
|
|
|
|
|
|
|
|
|
| Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation |
|
|
|
|
|
|
|
|
|
| A case of pycnodysostosis with growth hormone deficiency |
|
|
|
|
|
|
|
|
|
| Subtle translocation (18;21) confirmed by FISH in a patient with Down syndrome |
|
|
|
|
|
|
|
|
|
| Short Report on DNA Marker at Candidate Locus: Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4) |
|
|
|
|
|
|
|
|
|
| Rapid detection of a mutation hot‐spot in the human androgen receptor |
|
|
|
|
|
|
|
|
|
| Siblings with congenital renal tubular acidosis and nerve deafness |
|
|
|
|
|
|
|
|
|
| A case report of 46, XX, del (21)(q22) <i>de novo</i> deletion associated with Imerslund‐Grasbeck syndrome |
|
|
|
|
|
|
|
|
|
| Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase‐Smith syndrome? |
|
|
|
|
|
|
|
|
|
| Abnormal extracellular matrix in Ehlers‐Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen |
|
|
|
|
|
|
|
|
|
| Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers |
|
|
|
|
|
|
|
|
|
| The apolipoprotein E gene in Binswanger's disease and vascular dementia |
|
|
|
|
|
|
|
|
|
| Outcomes and process in genetic counselling |
|
|
|
|
|
|
|
|
|
| Rett syndrome in Northern Tuscany (Italy): family tree studies |
|
|
|
|
|
|
|
|
|
| Silver‐Russell syndrome and exclusion of uniparental disomy |
|
|
|
|
|
|
|
|
|
| Tri‐amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? |
|
|
|
|
|
|
|
|
|
| Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion |
|
|
|
|
|
|
|
|
|
| Frequent intragenic polymorphism in the 3‘ untranslated region of the lissencephaly gene 1 (LIS‐1) |
|
|
|
|
|
|
|
|
|
| Dinucleotide repeat polymorphisms at <i>D9S171</i> and <i>D9S741</i> are identical |
|
|
|
|
|
|
|
|
|
| A new silent C to T polymorphism in the exon 3 of the oxytocin receptor gene |
|
|
|
|
|
|
|
|
|
| Increased paternal age in CHARGE association |
|
|
|
|
|
|
|
|
|
| CFC syndrome: report of familial cases |
|
|
|
|
|
|
|
|
|
| Attitudes towards termination for fetal abnormality: comparisons in three European countries |
|
|
|
|
|
|
|
|
|
| Maternal non‐recognition of Down syndrome in black South African infants |
|
|
|
|
|
|
✓ |
✓ |
black South African; African; Caucasoids |
| Detection of a <i>Sacl</i> restriction fragment length polymorphism at the human phenolsulphotransferase locus |
|
|
|
|
|
|
|
|
|
| How often has Lp(a) evolved? |
|
|
|
|
|
|
|
|
|
| Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population |
|
|
|
|
|
|
✓ |
✓ |
Spanish ("Spanish patients" / "Spanish population") |
| A comparative study of X‐inactivation in Rett syndrome probands and control subjects |
|
|
|
|
|
|
|
|
|
| Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq) |
|
|
|
|
|
|
|
|
|
| Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity |
|
|
|
|
|
|
|
|
|
| Cohen syndrome: the clinical symptoms and stigmata at a young age |
|
|
|
|
|
|
|
|
|
| Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy |
|
|
|
|
|
|
|
|
|
| A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs |
|
|
|
|
|
|
|
|
|
| Interstitial 6q deletion and Prader‐Willi‐like phenotype |
|
|
|
|
|
|
|
|
|
| Fibular dimelia and mirror foot without associated anomalies |
|
|
|
|
|
|
|
|
|
| Duodenal web in the syndrome of osteopathia striata with cranial sclerosis |
|
|
|
|
|
|
|
|
|
| Alopecia‐mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism |
|
|
|
|
|
|
|
|
|
| Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings |
|
|
|
|
|
|
|
|
|
| Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome? |
|
|
|
|
|
|
|
|
|
| G542X mutation in Mexican cystic fibrosis patients |
|
|
|
|
|
|
✓ |
✓ |
ethnic origin of the Mexican population; Mexican; Spain |
| Neuropsychological aspects of Marfan syndrome |
|
|
|
|
|
|
|
|
|
| Identification of two apolipoprotein variants, A‐I Karatsu (Tyr 100 → His) and A‐I Kurume (His 162 → Gin) |
|
|
|
|
|
|
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| Screening for coeliac disease as a possible maternal risk factor for neural tube defect |
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| On two patients with and without the classical Wolf‐Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome |
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| The molecular characterization of Gaucher disease in South Africa |
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✓ |
✓ |
Gentile Caucasoids; Caucasoid |
| Short Report on DNA Marker at Candidate Locus |
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| Short Report on DNA Marker at Candidate Locus |
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| X‐linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein |
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| Mitotic and meiotic stability of the CAG repeat in the X‐linked spinal and bulbar muscular atrophy gene |
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| A cystic fibrosis patient homozygous for 621 + 1G→T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro‐esophageal reflux |
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✓ |
✓ |
Polish CF families |
| Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution |
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| Familial Alzheimer's disease co‐segregates with a Met 146 Ile substitution in presenilin‐1 |
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| Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele |
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| Apolipoprotein E<sup>4</sup>allele in the normal elderly: neuropsychologic and brain MRI correlates |
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| Trisomy 13/trisomy 18 mosaicism in an infant |
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| Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly |
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| Cord blood immunoglobulin E in like‐sexed monozygotic and dizygotic twins |
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| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO‐SL): a genealogical study of Swedish families of probable Finnish background |
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✓ |
✓ |
Finnish origin; Finnish ancestors; Finnish influence; probable Finnish origin; Swedish families; Finnish origin; Finnish ancestors; Finnish influence; probable Finnish origin |
| Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome |
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| Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature |
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| Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males |
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| Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26) |
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| Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome? |
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| COFS syndrome with familial 1;16 translocation |
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| Further evidence for a syndrome of “apple peel” intestinal atresia, ocular anomalies and microcephaly |
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| Mild form of beta‐ketothiolase deficiency (mitochondrial acetoacetyl‐CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross‐reactive material in EB |
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✓ |
✓ |
Japanese |
| Familial translocation (X;3)(p22.3;p23): chromosomal <i>in situ</i> suppression (CISS) hybridization and inactivation pattern study |
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| A new autosomal recessive syndrome of pachygyria |
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| Terminal deletion of the long arm of chromosome 4 in a mother and two sons |
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| Lack of association of angiotensin I‐converting enzyme gene polymorphism and premature myocardial infarction in Mauritian Indians |
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✓ |
✓ |
Mauritian Indians |
| Population variation at the polymorphic ApaLI restriction enzyme site in intron 5 of the WT1 gene |
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| Gaucher disease: studies of phenotype, molecular diagnosis and treatment |
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| Risk estimates for balanced reciprocal translocation carriers — prenatal diagnosis experience |
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| Announcement |
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| RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility |
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✓ |
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✓ |
✓ |
Scandinavian; Scandinavia; immigrant |
| Maternal origin of transferrin receptor positive cells in venous blood of pregnant women |
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| Dandy‐Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome |
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| Marker chromosome identification by micro‐FISH |
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| Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association |
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| Distribution of marker‐Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis |
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| Detection of the Pvull RFLP in intron 15 of the LDL receptor gene by long‐distance PCR |
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| Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family |
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| Branchio‐oto (BO) syndrome and oculoauriculo‐vertebral phenotype: overlapping clinical findings in a child from a BO family |
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| A <i>de novo</i> interstitial deletion of chromosome 15 band q25 as revealed by FISH‐technique |
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| Four frequently observed polymorphisms in the 3‘‐UTR of human peripheral myelin protein 22 (<i>PMP22</i>): identification of different haplotypes |
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| A new year, a new start |
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| Supernumerary ring chromosome 20 characterized by fluorescence <i>in situ</i> hybridization |
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| Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia |
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| Trisomy 18 mosaicism associated with secondary amenorrhea: ratios of mosaicism in different samples and complications |
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| Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4‐year‐old boy with possible Wiedemann syndrome |
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