✦ LIBER ✦

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

✍ Scribed by Karina Meden Sørensen; Milad El-Segaier; Eva Fernlund; Ab Errami; Patrice Bouvagnet; Nancy Nehme; Jesper Steensberg; Vibeke Hjortdal; Maria Soller; Mohaddeseh Behjati; Thomas Werge; Maria Kirchoff; Jan Schouten; Niels Tommerup; Paal Skytt Andersen; Lars Allan Larsen

Book ID: 111995074
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 148 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35214

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Investigation of gene dosage imbalances

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis

✍ Anna-Maja Nyström; Sara Ekvall; Ann-Charlotte Thuresson; Ellen Denayer; Eric Leg 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 271 KB

Analysis of RET, ZEB2, EDN3 and GDNF Gen

Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in 80 Patients with Hirschsprung Disease (Using multiplex ligation-dependent probe amplification)

✍ A. Serra; H. Görgens; K. Alhadad; A. Ziegler; G. Fitze; H. K. Schackert 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB

Gene diagnosis for nine Chinese patients

Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them

✍ Yupeng Wu; Gengxin Yin; Keqin Fu; De Wu; Qian Zhai; Huarong Du; Zhongjun Huang; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB

## Abstract This study aims to perform gene diagnosis for nine patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and their parents with multiplex ligation‐dependent probe amplification (MLPA), and to carry out prenatal gene diagnosis for one of them. Genomic DNA of the peripheral blood and

Analysis of RET, ZEB2, EDN3 and GDNF Gen

Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification

✍ Alexandre Serra; Heike Görgens; Karin Alhadad; Guido Fitze; Hans K. Schackert 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB

Multiplex ligation-dependent probe ampli

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia

✍ A Taylor; B Martin; D Wang; K Patel; SE Humphries; G Norbury 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 261 KB

Screening of autosomal gene deletions in

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1

✍ Ericka Barbosa Trarbach; Milena Gurgel Teles; Elaine Maria Frade Costa; Ana Paul 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB