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  • Xiao-ping Zhou, Kristin A. Waite, +13 authors Charis Eng
  • Medicine, Biology
  • American journal of human genetics
  • 2003 (First Published: 1 August 2003)
  • Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). The underlying genetic causesContinue Reading
  • Randall L. Kelley, Erich Roessler, +5 authors Maximilian Muenke
  • Biology, Medicine
  • American journal of medical genetics
  • 1996 (First Published: 30 December 1996)
  • The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome associated with increased levels of 7-dehydro-cholesterol (7-DHC) and a defect of cholesterolContinue Reading
  • Dana C. Crawford, Charles E. Schwartz, +13 authors Stephanie L. Sherman
  • Biology, Medicine
  • American journal of human genetics
  • 2000 (First Published: 1 February 2000)
  • Previous studies have shown that specific short-tandem-repeat (STR) and single-nucleotide-polymorphism (SNP)-based haplotypes within and among unaffected and fragile X white populations are found toContinue Reading
  • Chang Her Tsai, Daniel L Van Dyke, Gerald L Feldman
  • Biology, Medicine
  • American journal of medical genetics
  • 1999 (First Published: 12 February 1999)
  • We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and rightContinue Reading
  • Kristin G. Monaghan, Charles E. Jackson, Debra L Kukuruga, Gerald L Feldman
  • Biology, Medicine
  • American journal of medical genetics
  • 2000 (First Published: 11 September 2000)
  • Cationic trypsinogen and cystic fibrosis mutations have been identified in pancreatitis patients, although no study has looked for mutations in both genes in the same patient. Pancreatitis can beContinue Reading