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。An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder
Md. Ashiquir Rahaman et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2021)
Hutchinson-Gilford Progeria syndrome: Report of the first Togolese case
Koffi M. Guedenon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene
Vassos Neocleous et al.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM (2019)
Hedgehog Signal and Genetic Disorders
Noriaki Sasai et al.
FRONTIERS IN GENETICS (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
Artificial intelligence for precision medicine in neurodevelopmental disorders
Mohammed Uddin et al.
NPJ DIGITAL MEDICINE (2019)
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
Fulvia Baldinotti et al.
HORMONE RESEARCH IN PAEDIATRICS (2018)
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis
Asma Tajouri et al.
HUMAN MUTATION (2018)
Clinical and genetic characterization of AP4B1-associated SPG47
Darius Ebrahimi-Fakhari et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
K. M. Furkan Uddin et al.
CLINICAL CASE REPORTS (2018)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (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)
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site
Renata Voltolini Velho et al.
HUMAN MOLECULAR GENETICS (2015)
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Kristiina Tammimies et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing
Ralf Werner et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India
Parayil Sankaran Bindu et al.
MITOCHONDRION (2015)
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Hengameh Abdollahpour et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB)
Raffaella De Pace et al.
HUMAN MUTATION (2014)
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
Mohammed Uddin et al.
NATURE GENETICS (2014)
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
Andoni Echaniz-Laguna et al.
NEUROLOGY (2013)
SURF1 deficiency: a multi-centre natural history study
Yehani Wedatilake et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice
K. Kollmann et al.
BRAIN (2012)
SURF1-Associated Leigh Syndrome: A Case Series and Novel Mutations
Inn-Chi Lee et al.
HUMAN MUTATION (2012)
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
Peter Bauer et al.
NEUROGENETICS (2012)
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
M. F. Coutinho et al.
CLINICAL GENETICS (2011)
U1 snRNA-Mediated Gene Therapeutic Correction of Splice Defects Caused by an Exceptionally Mild BBS Mutation
Fabian Schmid et al.
HUMAN MUTATION (2011)
Mechanisms and functions of Hedgehog signalling across the metazoa
Philip W. Ingham et al.
NATURE REVIEWS GENETICS (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
S. S. Cathey et al.
JOURNAL OF MEDICAL GENETICS (2010)
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
Annemieke J. M. H. Verkerk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations
M. Encarnacao et al.
CLINICAL GENETICS (2009)
Molecular Characterization of 22 Novel UDP-N-Acetylglucosamine-1-Phosphate Transferase α- and β-Subunit (GNPTAB) Gene Mutations Causing Mucolipidosis Types IIα/β and IIIα/β in 46 Patients
Barbara Tappino et al.
HUMAN MUTATION (2009)
Mucolipidosis II:: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population
M. Plante et al.
CLINICAL GENETICS (2008)
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II
B. Tappino et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Aberrant 5′ splice sites in human disease genes:: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization
Emanuele Buratti et al.
NUCLEIC ACIDS RESEARCH (2007)
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
Ruth Bargal et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase α/β-subunits precursor gene
M Kudo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis
P Canto et al.
MOLECULAR HUMAN REPRODUCTION (2005)
Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase
S Tiede et al.
NATURE MEDICINE (2005)
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolliplidoslis type II or type IIIA
KH Paik et al.
HUMAN MUTATION (2005)
Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis
P Canto et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
PL Beales et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
K Mykytyn et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
K Mykytyn et al.
NATURE GENETICS (2002)
A SURF1 gene mutation presenting as isolated leukodystrophy
S Rahman et al.
ANNALS OF NEUROLOGY (2001)
Assignment of Desert Hedgehog (DHH) to human chromosome bands 12q12 -> q13.1 by in situ hybridization
G Tate et al.
CYTOGENETICS AND CELL GENETICS (2000)
分享论文
