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Clinical Genetics|January 23, 2009
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutationsB Söylen, K K Singh, A Abuzainin, et al.
International Journal of Oral and Maxillofacial Surgery|May 6, 2003
Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approachN Shouman, B Pabst, M Arslan-Kirchner, et al.
Neuropediatrics|July 13, 2004
Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox geneH Hartmann, G Uyanik, C Gross, et al.
Pediatric Nephrology (Berlin, Germany)|May 11, 2000
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuriaH Langen, D von Kietzell, D Byrd, et al.
Genomics|September 24, 1999
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1L Feliubadaló, L Bisceglia, M Font, et al.
Clinical Genetics|December 19, 2013
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutationS Sheikhzadeh, L Brockstaedt, C R Habermann, et al.
Clinical Genetics|July 29, 2010
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2S Sheikhzadeh, M Rybczynski, C R Habermann, et al.
Clinical Genetics|September 3, 2011
Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeS Sheikhzadeh, C Kade, B Keyser, et al.
Journal of Inherited Metabolic Disease|November 1, 2002
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesW J Kleijer, V H Garritsen, M Linnebank, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, et al.
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