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X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in theExpand
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Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletionExpand
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X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsibleExpand
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Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene
Mutations in the FGD1 gene have been shown to cause Aarskog–Scott syndrome (AAS), or facio‐digito‐genital dysplasia (OMIM#305400), an X‐linked disorder characterized by distinctive genital andExpand
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Non-disjunction of chromosome 18.
A sample of 100 trisomy 18 conceptuses analysed separately and together with a published sample of 61 conceptuses confirms that an error in maternal meiosis II (MII) is the most frequent cause ofExpand
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Iron prophylaxis during pregnancy – How much iron is needed? A randomized dose– response study of 20–80 mg ferrous iron daily in pregnant women
Objective.  To determine the lowest dose of iron preventative of iron deficiency and iron deficiency anemia in pregnancy.
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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severity of myotonic dystrophy type l (DM1) ranges from severe andExpand
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Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia.
OBJECTIVE To describe the somatic development and craniofacial morphology in males affected with hypohidrotic ectodermal dysplasia (HED) and female carriers and to find clinical markers for earlyExpand
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Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.
We studied the mechanism of ring chromosome 21 (r(21)) formation in 13 patients (11 unique r(21)s), consisting of 7 from five families with familial r(21) and 6 with de novo r(21). The copy number ofExpand
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Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.
OBJECTIVE The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult becauseExpand
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