✦ LIBER ✦

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

✍ Scribed by Samaneh Zhian; John Belmont; Cheryl L. Maslen

Book ID: 111995273
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 75 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35457

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Missense Mutations in CRELD1 Are Associa

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

✍ Susan W. Robinson; Cynthia D. Morris; Elizabeth Goldmuntz; Mark D. Reller; Melan 📂 Article 📅 2003 🏛 American Society of Human Genetics 🌐 English ⚖ 368 KB

CRELD1 mutations contribute to the occur

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome

✍ Cheryl L. Maslen; Darcie Babcock; Susan W. Robinson; Lora J. H. Bean; Kenneth J. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 1 views

Combination of Aortopulmonary Window and

Combination of Aortopulmonary Window and Complete Atrioventricular Septal Defect in a Patient With Heterotaxy Syndrome

✍ Mohammad Reza Mirzaaghayan; Reza Shabanian; Abdolrazagh Kiani 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 96 KB

Mutations in GATA4, NKX2.5, CRELD1, and

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

✍ Maximilian G. Posch; Andreas Perrot; Katharina Schmitt; Sebastian Mittelhaus; Ev 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

Plasma endothelin-1 and nitrate levels i

Plasma endothelin-1 and nitrate levels in Down’s syndrome with complete atrioventricular septal defect-associated pulmonary hypertension: a comparison with non-Down’s syndrome children

✍ Metin Sungur; Burhan Öcal; Deniz Oğuz; Selmin Karademir; Cemşit Karakurt; Filiz 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 107 KB

ASALL4zinc finger missense mutation pred

ASALL4zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

✍ Jan Miertus; Wiktor Borozdin; Vladimir Frecer; Giorgio Tonini; Sara Bertok; Anto 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 487 KB