Published in Clin Pediatr Endocrinol on November 08, 2008
Hypospadias: anatomy, etiology, and technique. J Pediatr Surg (2006) 2.94
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med (2006) 2.39
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet (1997) 1.15
Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. J Biol Chem (2007) 1.08
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Neuromuscul Disord (2005) 1.00
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum Mol Genet (1996) 0.95
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Genomics (1997) 0.91
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. Cytogenet Cell Genet (1999) 0.87
Genetics of human growth. Clin Pediatr Endocrinol (2006) 1.10
Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocr J (2006) 1.09
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res (2006) 0.99
Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertil Steril (2006) 0.99
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A (2005) 0.95
Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother. Horm Res Paediatr (2010) 0.89
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. Endocr J (2004) 0.88
Target height and target range for Japanese children: revisited. Clin Pediatr Endocrinol (2007) 0.83
Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function. Eur J Endocrinol (2003) 0.80
Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14. Clin Pediatr Endocrinol (2008) 0.79
KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation. Clin Pediatr Endocrinol (2007) 0.77
Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography. Clin Pediatr Endocrinol (2009) 0.75
A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome. Clin Pediatr Endocrinol (2008) 0.75