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American Journal of Medical Genetics. Part A|January 6, 2005
Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delayG Barbi, Ch Spaich, S Adolph, et al.
American Journal of Medical Genetics. Part A|January 18, 2005
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 geneAlessandro Iannaccone, Kirk Mykytyn, Antonio M Persico, et al.
American Journal of Medical Genetics. Part A|January 26, 2005
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2M Cristina Digilio, Bruno Marino, Rossella Capolino, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
Lateral meningocele syndrome: vertical transmission and expansion of the phenotypeKelly M Chen, Lynne Bird, Pat Barnes, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysisCedric Shackleton, Josep Marcos, Ewa M Malunowicz, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
A new insight into fragile X syndrome among Basque populationOlga Peñagarikano, Alberto Gil, Mercedes Télez, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Nonmosaic smallest duplication of 12q24.31-qter: the first reported caseJulie Won Ireland, Syed M Jalal, Pamela S McGrann, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)Damien Sanlaville, François Vialard, François Thépot, et al.
American Journal of Medical Genetics. Part A|November 10, 2004
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studiesDaniela Ehling, Ingo Kennerknecht, Annelore Junge, et al.
American Journal of Medical Genetics. Part A|October 14, 2004
Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal developmentK Ounap, O Uibo, R Zordania, et al.
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