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Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: the Rotterdam study
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Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome
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Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
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Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval
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Behavioral and psychological signs and symptoms in patients with dementia of the Alzheimer type (DAT) and frontotemporal dementia (FTD): no effect of APOE genotype
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Systematic analysis of the effect of novel Alzheimer disease PS1/2 mutations on A beta secretion
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International Nosology and Classification of Constitutional Disorders of Bone (2001).
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Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.
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Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
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Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35 -> qter: Molecular cytogenetic analysis and clinical phenotype in two generations.
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Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
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Autosomal recessive nonsyndromic hearing loss
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Autosomal dominant nonsyndromic hearing impairment
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The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs.
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CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.
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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.
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Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997.
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Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
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Correlation of linkage data with phenotype in eight families with Stickler syndrome.
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Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
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Autopsy diagnosis of the Smith-Lemli-Opitz syndrome
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Multiple vertebral segmentation defects: analysis of 26 new cases and review of the literature
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Revised diagnostic criteria for the Marfan syndrome.
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Mosaic tetrasomy 15q25->qter in a newborn infant with multiple anomalies.
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Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: A new example of the Chitty syndrome.
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Blomstrand lethal osteochondrodysplasia.
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SEVERE SMITH-LEMLI-OPITZ SYNDROME WITH PROLONGED SURVIVAL AND LIPID ABNORMALITIES.
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Proximal deletion of chromosome-21 confirmed by in-situ hybridization and molecular studies.
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6 CASES OF 7P DELETION - CLINICAL, CYTOGENETIC, AND MOLECULAR STUDIES.
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Jumping translocation in a newborn boy with dup(4q) and severe hydrops-fetalis.
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Osteoporosis-pseudoglioma syndrome
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Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24
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On the variability of the Brachmann-De Lange Syndrome in seven patients.
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HETEROGENEITY VERSUS VARIABILITY IN MEGALOCORNEA-MENTAL RETARDATION (MMR) SYNDROMES - REPORT OF NEW CASES AND DELINEATION OF 4 PROBABLE TYPES.
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Molecular nosology of heritable disorders of connective tissue
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Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization
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Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families