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。Legius Syndrome in Fourteen Families
Ellen Denayer et al.
HUMAN MUTATION (2011)
SPRED1 Mutations in a Neurofibromatosis Clinic
Talia M. Muram-Zborovski et al.
JOURNAL OF CHILD NEUROLOGY (2010)
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
Diane Van Opstal et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Lisenka E. L. M. Vissers et al.
HUMAN MOLECULAR GENETICS (2009)
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome
Ludwine Messiaen et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2009)
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
E. Pasmant et al.
JOURNAL OF MEDICAL GENETICS (2009)
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
G. Spurlock et al.
JOURNAL OF MEDICAL GENETICS (2009)
Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q
Gabriela Calounova et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay
Chih-Ping Chen et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Hilde Brems et al.
NATURE GENETICS (2007)
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome tiling path BAC array in a girl with heart defect, cleft palate, and developmental delay
Fikret Erdogan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Rapid detection of VHL exon deletions using real-time quantitative PCR
J Hoebeeck et al.
LABORATORY INVESTIGATION (2005)
The Sprouty-related protein, Spred, inhibits cell motility, metastasis, and Rho-mediated actin reorganization
K Miyoshi et al.
ONCOGENE (2004)
MLPA and MAPH: New techniques for detection of gene deletions
LN Sellner et al.
HUMAN MUTATION (2004)
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
JP Schouten et al.
NUCLEIC ACIDS RESEARCH (2002)
分享论文
