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Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E. LAMA2 gene analysis in a cohort...
Chaudhari BP, Plunkett J, Ratajczak CK, Shen TT, DeFranco EA, Muglia LJ. The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development.Clin Genet 2008: 74: 493–501. © Blackwell Munksgaard, 2008The timing of birth necessitates the coupling of fetal maturation with the...
Lybæk H, Øyen N, Fauske L, Houge G. A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.Clin Genet 2008: 74: 553–559. © Blackwell Munksgaard, 2008A familial q21.1q23.2-inversion on chromosome 14 that...
Wu Z-Y, Lin Y, Chen W-J, Zhao G-X, Xie H, Murong S-X, Wang N. Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.Clin Genet 2008: 74: 513–521. © Blackwell Munksgaard, 2008The symptomatic treatment of dopa-responsive dystonia (DRD) emphasizes the...
Zuckerman S, Lahad A, Zimran A, Levy-Lahad E, Sagi M. Attitudes of couples identified through screening as carriers of Gaucher disease type 1.Clin Genet 2008: 74: 566–570. © Blackwell Munksgaard, 2008Gaucher disease (GD) type 1 is the most frequent autosomal recessive disorder among Ashkenazi...
Hertz JM, Juncker I, Marcussen N. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.Clin Genet 2008: 74: 522–530. © Blackwell Munksgaard, 2008The X-linked form of Alport syndrome (AS) is caused by mutations in the COL4A5 gene encoding the α5 chain of type...
Shariat N, Holladay CD, Cleary RK, Phillips III JA, Patton JG. Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.Clin Genet 2008: 74: 539–545. © Blackwell Munksgaard, 2008A heterozygous single base...
Gervasini C, Pfundt R, Castronovo P, Russo S, Roversi G, Masciadri M, Milani D, Zampino G, Selicorni A, Schoenmakers EFPM, Larizza L. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.Clin Genet 2008: 74: 531–538. ©...
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