✦ LIBER ✦

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

✍ Scribed by Diego Ojeda; Besma Lakhal; Dora Janneth Fonseca; Rim Braham; Hanène Landolsi; Heidi Eliana Mateus; Carlos Martín Restrepo; Hatem Elghezal; Ali Saâd; Paul Laissue

Book ID: 116478737
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 219 KB
Volume: 95
Category: Article
ISSN: 1556-5653
DOI: 10.1016/j.fertnstert.2011.04.045

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation analysis of the growth differen

Mutation analysis of the growth differentiation factor-9 and -9B genes in patients with premature ovarian failure and polycystic ovary syndrome

✍ Koichi Takebayashi; Kenji Takakura; Hua-Qin Wang; Fuminori Kimura; Kyoko Kasahar 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 67 KB

Analysis of the COL7A1 gene in Czech pat

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

✍ Jeřábková, Barbora; Kopečková, Lenka; Bučková, Hana; Veselý, Karel; Valíčková, J 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 414 KB

Phenotypic Heterogeneity in Patients wit

Phenotypic Heterogeneity in Patients with Familial Partial Lipodystrophy (Dunnigan Variety) Related to the Site of Missense Mutations in Lamin A/C Gene 1

✍ Garg, Abhimanyu; Vinaitheerthan, Maheswari; Weatherall, Paul T.; Bowcock, Anne M 📂 Article 📅 2001 🏛 Endocrine Society 🌐 English ⚖ 649 KB

Corrigendum to: Analysis of SLC40A1 gene

Corrigendum to: Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV [Blood Cells Mol. Dis. 40:3 (2008) 353–359]

✍ Speletas, Matthaios; Kioumi, Anna; Loules, Gedeon; Hytiroglou, Prodromos; Tsitou 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 89 KB

Molecular Analysis of the Cyclic AMP-Dep

Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Reveals Novel Mutations and Clues For Pathophysiology: Augmented PKA Signaling is Associated with Adrenal Tumorigenesis in PPNAD

✍ Lionel Groussin; Lawrence S. Kirschner; Caroline Vincent-Dejean; Karine Perlemoi 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 913 KB