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Chudley AE. Genetic landmarks through philately: Luís Morquio 1867–1935. Clin Genet 2002: 62: 438–439. © Blackwell Munksgaard, 2002 Morquio syndrome, also known as Mucopolysaccharidosis Type IV, is well known to pediatricians and geneticists, although it is rare. Many do not know much about...
Vieira AR, Karras JC, Orioli IM, Castilla EE, Murray JC. Genetic origins in a South American clefting population. Clin Genet 2002: 62: 458–463. © Blackwell Munksgaard, 2002 It has been proposed that susceptibility to clefting in South America is related to Amerindian ancestry, where clefting...
Krikovszky D, V´s´rhelyi B, Tóth-Heyn P, Körner A, Tulassay T, Madácsy L. Association between G−308A polymorphism of the tumor necrosis factor-ॅ gene and 24-hour ambulatory blood pressure values in type 1 diabetic adolescents. Clin Genet 2002: 62: 474–477. © Blackwell Munksgaard, 2002...
Zhao Y, Tan EK, Law HY, Yoon CS, Wong MC, Ng I. Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. Clin Genet 2002: 62: 478–481. © Blackwell Munksgaard, 2002 We report the prevalence and ethnic differences of autosomal-dominant cerebellar ataxia (ADCA) in...
This review covers the history and nosology of X-linked mental retardation (XLMR) in which the following, largely clinically based, subclassification was used: fragile X syndrome (FRAXA), syndromic forms (MRXS) and non-specific forms (MRX). After the discovery of the FMR2 gene at the FRAXE site,...
Metcalfe KA, Liede A, Trinkaus M, Hanna D, Narod SA. Evaluation of the needs of spouses of female carriers of mutations in BRCA1 and BRCA2.Clin Genet 2002: 62: 464–469. © Blackwell Munksgaard, 2002 The process of genetic testing involves the entire family, including spouses. The objective of...
The regions near telomeres of human chromosomes are gene rich. Chromosome subtelomere rearrangements occur with a frequency of 7 10 in children with mild-to-moderate mental retardation (MR) and approximately 50 of cases are familial. Clinical investigation of subtelomere rearrangements is now...
Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez M-P. FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. Clin Genet 2002: 62: 470–473. © Blackwell Munksgaard, 2002 We report a family showing autosomal-dominant segregation of upper- and lower-eyelid...
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