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Human Mutation|January 5, 2007
ZFHX1B mutations in patients with Mowat-Wilson syndromeFlorence Dastot-Le Moal, Meredith Wilson, David Mowat, et al.
Human Mutation|January 11, 2007
Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traitsMohammad R Abdollahi, Rohan M Lewis, Tom R Gaunt, et al.
Human Mutation|January 11, 2007
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthoodFransiska Malfait, Sofie Symoens, Julie De Backer, et al.
Human Mutation|January 12, 2007
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)Sheila A Fisher, Andrea Rivera, Lars G Fritsche, et al.
Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Human Mutation|April 3, 2007
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. OnlineVedam L Ramprasad, Neil D Ebenezer, Tin Aung, et al.
Human Mutation|April 3, 2007
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. OnlineBaljinder Singh, Arnaud Monteil, Isabelle Bidaud, et al.
Human Mutation|April 3, 2007
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. OnlineMichela Donnarumma, Stefano Regis, Barbara Tappino, et al.
Human Mutation|February 8, 2007
Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in TaiwanYi-Wen Lin, Lea Chia-Ling Hsu, Pao-Lin Kuo, et al.
Human Mutation|January 31, 2007
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, et al.
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