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。Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population
Karin Weiss et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
Ghada M. H. Abdel-Salam et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Novel PCNT variants inMOPDIIwith attenuated growth restriction and pachygyria
Stephanie Waich et al.
CLINICAL GENETICS (2020)
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
Masoud Dehghan Tezerjani et al.
FRONTIERS IN PEDIATRICS (2020)
Genomic and phenotypic delineation of congenital microcephaly
Ranad Shaheen et al.
GENETICS IN MEDICINE (2019)
Primordial Dwarfism: A Case Series From North East of Iran and Literature Review
Rahim Vakili et al.
JOURNAL OF PEDIATRICS REVIEW (2019)
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
Michael B. Bober et al.
CURRENT OSTEOPOROSIS REPORTS (2017)
Primordial dwarfism: overview of clinical and genetic aspects
Preeti Khetarpal et al.
MOLECULAR GENETICS AND GENOMICS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms
Fei-Feng Li et al.
METABOLIC BRAIN DISEASE (2015)
Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II
Ali F. Karatas et al.
JOURNAL OF PEDIATRIC ORTHOPAEDICS (2014)
Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): A Potential Role of Pericentrin in Hematopoiesis
Sule Unal et al.
PEDIATRIC BLOOD & CANCER (2014)
Importance of the CEP215-Pericentrin Interaction for Centrosome Maturation during Mitosis
Seongjae Kim et al.
PLOS ONE (2014)
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
Michael B. Bober et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The Smallest Teeth in the World are Caused by Mutations in the PCNT Gene
Piranit Kantaputra et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
M. Willems et al.
JOURNAL OF MEDICAL GENETICS (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
Anita Rauch et al.
SCIENCE (2008)
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
Elen Griffith et al.
NATURE GENETICS (2008)
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies
F Brancati et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings
JG Hall et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Autopsy case of microcephalic osteodysplastic primordial Dwarfism type II
R Fukuzawa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
分享论文
