✦ LIBER ✦

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

✍ Scribed by Maria Piccione; Federico Matina; Marco Fichera; Mariangela Lo Giudice; Gianfranca Damiani; Maria Cristina Jakil; Giovanni Corsello

Publisher: Springer
Year: 2009
Tongue: English
Weight: 228 KB
Volume: 169
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-009-1037-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE D

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY DIRECT MUTATION DETECTION

✍ LEE-JUN C. WONG 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 361 KB 👁 1 views

Current laboratory diagnosis for glycogen storage disease type la (GSD la) is established by functional enzyme assay to demonstrate the deficiency of glucosed-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morb

Novel L1CAM splice site mutation in a yo

Novel L1CAM splice site mutation in a young male with L1 syndrome

✍ Malin Rehnberg; Jon Jonasson; Cecilia Gunnarsson 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 77 KB 👁 2 views

Prenatal diagnosis of hydrometrocolpos i

Prenatal diagnosis of hydrometrocolpos in a down syndrome fetus

✍ Erik Dosedla; Marian Kacerovsky; Pavel Calda 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB

## Abstract We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, hetero

Detection of L1 CAM mutation in a male c

Detection of L1 CAM mutation in a male child with mental retardation

✍ M. Swarna; M. Sujatha; P. Usha Rani; P. P. Reddy 📂 Article 📅 2004 🏛 Association of Clinical Biochemistry of India 🌐 English ⚖ 555 KB

A novel mutation detected by temporal te

A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family

✍ Lee-Jun C. Wong; Jianjun Wang; Marilyn Woo; Evelyn Hsu; C. Michael Bowman 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 2 views

Mutational analysis of 30 recurrent known mutations detects only about 58% of Hispanic cystic fibrosis (CF) chromosomes. The low mutation detection rate has greatly hindered prenatal diagnosis and carrier testing of Hispanic families who have multiple affected children with unidentified cystic fibro

Prenatal sonographic diagnosis of hypoch

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus

✍ Huggins, Marlene J.; Mernagh, John R.; Steele, Leslie; Smith, John R.; Nowaczyk, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). Prenatal diagnosis of HCH based exclusively on the sonographic measurements of the fetal skeleton is difficult and has not been reported. We describe a newborn infant with HCH who was born to a m