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 MKS locus defined by TMEM107 mutation
Ranad Shaheen et al.
HUMAN MOLECULAR GENETICS (2015)
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Elle C. Roberson et al.
JOURNAL OF CELL BIOLOGY (2015)
Compound Heterozygosity for a Frame Shift Mutation and a Likely Pathogenic Sequence Variant in the Planar Cell Polarity-Ciliogenesis Gene WDPCP in a Girl With Polysyndactyly, Coarctation of the Aorta, and Tongue Hamartomas
Jonathan Saari et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Ingeborg Barisic et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
The usefulness of whole-exome sequencing in routine clinical practice
Alejandro Iglesias et al.
GENETICS IN MEDICINE (2014)
C5orf42 is the major gene responsible for OFD syndrome type VI
Estelle Lopez et al.
HUMAN GENETICS (2014)
Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX
Nouran Adly et al.
HUMAN MUTATION (2014)
Bardet-Biedl syndrome: cilia and obesity - From genes to integrative approaches
Kirsley Chennen et al.
M S-MEDECINE SCIENCES (2014)
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
Christel Thauvin-Robinet et al.
NATURE GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development
Amy R. Barker et al.
ORGANOGENESIS (2014)
Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
Hanan E. Shamseldin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Bardet-Biedl syndrome
Elizabeth Forsythe et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
TCTN3 Mutations Cause Mohr-Majewski Syndrome
Sophie Thomas et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling
Kasey J. Christopher et al.
DEVELOPMENTAL BIOLOGY (2012)
The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization
Jeremy F. Reiter et al.
EMBO REPORTS (2012)
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
Ben Chih et al.
NATURE CELL BIOLOGY (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
William E. Dowdle et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Clinical utility gene card for: Bardet-Biedl syndrome
Anne Slavotinek et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Francesc R. Garcia-Gonzalo et al.
NATURE GENETICS (2011)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente et al.
NATURE GENETICS (2010)
The primary cilium: a signalling centre during vertebrate development
Sarah C. Goetz et al.
NATURE REVIEWS GENETICS (2010)
Joubert Syndrome and related disorders
Francesco Brancati et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
Adenylate cyclase regulates elongation of mammalian primary cilia
Young Ou et al.
EXPERIMENTAL CELL RESEARCH (2009)
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling
Scott D. Weatherbee et al.
HUMAN MOLECULAR GENETICS (2009)
Research review oral-facial-digital syndromes: Review and diagnostic guidelines
Fiorella Gurrieri et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Leber congenital amaurosis - A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture
Edwin M. Stone
AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)
The graded response to sonic hedgehog depends on cilia architecture
Tamara Caspary et al.
DEVELOPMENTAL CELL (2007)
The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly
John A. Follit et al.
MOLECULAR BIOLOGY OF THE CELL (2006)
Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition
JF Reiter et al.
GENES & DEVELOPMENT (2006)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)