标题
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families
作者
关键词
-
出版物
HUMAN MUTATION
Volume 37, Issue 7, Pages 695-702
出版商
Wiley
发表日期
2016-04-03
DOI
10.1002/humu.22994
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes
- (2016) Aleksandra Jezela-Stanek et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review
- (2015) Natario L. Couser et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- APIGNmutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family
- (2015) Morad Khayat et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novelPIGNmutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency
- (2015) Taku Nakagawa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy
- (2015) Leah Fleming et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The genetics of common disorders – Congenital diaphragmatic hernia
- (2014) Anne M. Slavotinek European Journal of Medical Genetics
- Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia
- (2014) P.D. Brady et al. European Journal of Medical Genetics
- Prenatal and postnatal findings in five cases of Fryns syndrome
- (2014) Angela Peron et al. PRENATAL DIAGNOSIS
- Biosynthesis and deficiencies of glycosylphosphatidylinositol
- (2014) Taroh KINOSHITA PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES
- Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans
- (2014) Anna Petryk et al. Wiley Interdisciplinary Reviews-Developmental Biology
- PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy
- (2013) Chihiro Ohba et al. NEUROGENETICS
- The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria
- (2012) Jennifer J. Johnston et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
- (2012) Bobby G. Ng et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of Tgif Function Causes Holoprosencephaly by Disrupting the Shh Signaling Pathway
- (2012) Kenichiro Taniguchi et al. PLoS Genetics
- Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly
- (2012) D. M. McKean et al. Biology Open
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
- (2011) G. Maydan et al. JOURNAL OF MEDICAL GENETICS
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
- (2010) Peter M Krawitz et al. NATURE GENETICS
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
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