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。Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?
M. -L. Vuillaume et al.
CLINICAL GENETICS (2018)
Simpson-Golabi-Behmel Syndrome in a Female: A Case Report and an Unsolved Issue
Alessandro Vaisfeld et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
Heidi Kristine Stove et al.
CLINICAL CASE REPORTS (2017)
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome
Julia Schmidt et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome
Miriam S. DiMaio et al.
META GENE (2017)
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome
Soumeyya Halayem et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome
Pamela Magini et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications
F. Mujezinovic et al.
CLINICAL GENETICS (2016)
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome
Christina Kehrer et al.
PRENATAL DIAGNOSIS (2016)
Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome
Aneek Das Bhowmik et al.
GENE (2015)
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
Detelina Grozeva et al.
HUMAN MUTATION (2015)
Duplication of Exon 2 of the GPC3 Gene in a Case of Simpson-Golabi-Behmel Syndrome
Edouard Cottereau et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
A Patient With Simpson-Golabi-Behmel Syndrome, Biliary Cirrhosis and Successful Liver Transplantation
Guillaume Jedraszak et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Somatic CTNNB1 Mutation in Hepatoblastoma from a Patient with Simpson- Golabi- Behmel Syndrome and Germline GPC3 Mutation
Rika Kosaki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Paternal Germline Mosaicism for a GPC3 Deletion in X-Linked Simpson-Golabi-Behmel Syndrome
Ron Agatep et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
A Patient With a Unique Frameshift Mutation in GPC3, Causing Simpson-Golabi-Behmel Syndrome, Presenting With Craniosynostosis, Penoscrotal Hypospadias, and a Large Prostatic Utricle
Diana D. Villarreal et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Simpson-Golabi-Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of the GPC3 Gene
Maria Elena Mateos et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Phenotypic Spectrum of SimpsonGolabiBehmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
Edouard Cottereau et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2013)
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
D. Ganesamoorthy et al.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2013)
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report
Daigo Ochiai et al.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY (2013)
Glypican-3: a marker and a therapeutic target in hepatocellular carcinoma
Jorge Filmus et al.
FEBS JOURNAL (2013)
Simpson-Golabi-Behmel Syndrome Type 1 in a 27-Week Macrosomic Preterm Newborn: The Diagnostic Value of Rib Malformations and Index Nail and Finger Hypoplasia
Livia Garavelli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Metastatic Medulloblastoma in an Adolescent with Simpson-Golabi-Behmel Syndrome
Martha Thomas et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The Simpson-Golabi-Behmel Syndrome: A Clinical Case and a Detective Story
F. Gurrieri et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations
S. Yano et al.
CLINICAL GENETICS (2011)
A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review
Jan Weichert et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
Transient QT Interval Prolongation in an Infant With Simpson-Golabi-Behmel Syndrome
Emily Gertsch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Novel Duplication in Glypican-4 as an Apparent Cause of Simpson-Golabi-Behmel Syndrome
John Waterson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
A Patient With the Simpson-Golabi-Behmel Syndrome Displays a Loss-of-Function Point Mutation in GPC3 That Inhibits the Attachment of this Proteoglycan to the Cell Surface
Wen Shi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian Hedgehog
Mariana I. Capurro et al.
EMBO REPORTS (2009)
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome
Isabelle Penisson-Besnier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding
Mariana I. Capurro et al.
DEVELOPMENTAL CELL (2008)
Germinal mosaicism in Simpson-Golabi-Behmel syndrome
V. Romanelli et al.
CLINICAL GENETICS (2007)
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome
Satoru Sakazume et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome
EL Young et al.
PEDIATRIC NEUROLOGY (2006)
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome
G Rodríguez-Criado et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Clinical and molecular overlap in overgrowth syndromes
G Baujat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2005)
Index finger abnormalities in Simpson-Golabi-Behmel syndrome
R Day et al.
CLINICAL DYSMORPHOLOGY (2005)
The loss of glypican-3 induces alterations in wnt signaling
HH Song et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
The glypican Dally-like is required for Hedgehog signalling in the embryonic epidermis of Drosophila
SC Desbordes et al.
DEVELOPMENT (2003)
The role of glypicans in mammalian development
HH Song et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2002)
Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling
E Chiao et al.
DEVELOPMENTAL BIOLOGY (2002)
Glypicans in growth control and cancer
J Filmus
GLYCOBIOLOGY (2001)
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome:: identification of loss-of-function mutations in the GPC3 gene
M Veugelers et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
