✦ LIBER ✦

Molecular diagnosis of genetic disease

✍ Scribed by Payne, Stewart J.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 3 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971128)73:1<102::aid-ajmg26>3.0.co;2-o

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular genetic diagnosis of the famil

Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex)

✍ Goldstein, Marsha M.; Casey, Mairead; Carney, J. Aidan; Basson, Craig T. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

We describe an individual in whom molecular genetic testing provided a diagnosis of the Carney complex, an autosomal dominant syndrome comprising cutaneous and cardiac myxomas, spotty pigmentation of the skin, and endocrinopathy. Recently, we localized the Carney complex disease gene to chromosome r

Primary immunodeficiency diseases. A mol

Primary immunodeficiency diseases. A molecular and genetic approach.

✍ Shigeoka, Ann O'Neill 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB

Prenatal diagnosis of autosomal recessiv

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

✍ Zerres, Klaus; M�cher, Gabi; Becker, Jutta; Steinkamm, Carsten; Rudnik-Sch�nebor 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 1 views

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy. The ARPKD locus has been mapped to proximal chromosome 6p allo

Molecular genetics of Wiedemann-Beckwith

Molecular genetics of Wiedemann-Beckwith syndrome

✍ Li, Madeline; Squire, Jeremy A.; Weksberg, Rosanna 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. WBS is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic ca

Classical clinical genetics in the era o

Classical clinical genetics in the era of molecular genetics

✍ Méhes, K. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 2 views

Medicine is undergoing a quiet revolution. Molecular genetics is transforming clinical science and practice; the development of the Human Genome Project allows new methods of disease identification and of predicting disease patterns for individual patients. Knowledge of the human genome will deepen

Molecular and cellular genetics of fragi

Molecular and cellular genetics of fragile X syndrome

✍ Kaufmann, Walter E.; Reiss, Allan L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views