4.4 Article

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

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。
Article Biochemistry & Molecular Biology

A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP data

Douglas W. Bjelland et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Clinical Neurology

De novo point mutations in patients diagnosed with ataxic cerebral palsy

Ricardo Parolin Schnekenberg et al.

Article Clinical Neurology

Exome sequencing in undiagnosed inherited and sporadic ataxias

Angela Pyle et al.

Article Clinical Neurology

Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia

Sanjeev Rajakulendran et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)

Article Genetics & Heredity

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm

Tiia M. Luukkonen et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Biochemical Research Methods

A linear complexity phasing method for thousands of genomes

Olivier Delaneau et al.

NATURE METHODS (2012)

Article Genetics & Heredity

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

Molly B. Sheridan et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Article Genetics & Heredity

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot

Ralf Rauch et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Pediatrics

Identification of GATA6 Sequence Variants in Patients With Congenital Heart Defects

Meenaksh Maitra et al.

PEDIATRIC RESEARCH (2010)

Review Cell Biology

Duplication hotspots, rare genomic disorders, and common disease

Heather C. Mefford et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)

Article Biochemistry & Molecular Biology

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

M. Katharine Rudd et al.

HUMAN MOLECULAR GENETICS (2009)

Review Biochemistry & Molecular Biology

The mechanism of human nonhomologous DNA end joining

Michael R. Lieber

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Genetics & Heredity

GATA4 sequence variants in patients with congenital heart disease

A. Tomita-Mitchell et al.

JOURNAL OF MEDICAL GENETICS (2007)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Multidisciplinary Sciences

The functional genomics of noncoding RNA

JS Mattick

SCIENCE (2005)

Article Biochemistry & Molecular Biology

Chromosomal translocation mechanisms at intronic Alu elements in mammalian cells

B Elliott et al.

MOLECULAR CELL (2005)

Review Genetics & Heredity

Conserved non-genic sequences - an unexpected feature of mammalian genomes

ET Dermitzakis et al.

NATURE REVIEWS GENETICS (2005)

Article Cell Biology

Mobile elements and mammalian genome evolution

PL Deininger et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2003)

Article Genetics & Heredity

An Alu transposition model for the origin and expansion of human segmental duplications

JA Bailey et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Genetics & Heredity

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

A Pizzuti et al.

HUMAN MUTATION (2003)

Article Clinical Neurology

An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus

JL Steckley et al.

NEUROLOGY (2001)

Article Biochemistry & Molecular Biology

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

ZA Eldadah et al.

HUMAN MOLECULAR GENETICS (2001)

Article Biochemistry & Molecular Biology

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

H Kurahashi et al.

HUMAN MOLECULAR GENETICS (2000)