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。Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Anna Lindstrand et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
J. Thevenon et al.
CLINICAL GENETICS (2016)
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
K. M. Girisha et al.
CLINICAL GENETICS (2016)
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
Wenjuan Zhang et al.
HUMAN MOLECULAR GENETICS (2016)
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Elise Schaefer et al.
JOURNAL OF HUMAN GENETICS (2016)
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
Valentina Grampa et al.
PLOS GENETICS (2016)
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
Ivan Duran et al.
SCIENTIFIC REPORTS (2016)
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
Caroline Alby et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
A Case of Functional Growth Hormone Deficiency and Early Growth Retardation in a Child With IFT172 Mutations
Angela K. Lucas-Herald et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
Isabelle Perrault et al.
JOURNAL OF MEDICAL GENETICS (2015)
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
Albane A. Bizet et al.
NATURE COMMUNICATIONS (2015)
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
Kinga M. Bujakowska et al.
HUMAN MOLECULAR GENETICS (2015)
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
I. Filges et al.
CLINICAL GENETICS (2014)
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
Mohammed A. Aldahmesh et al.
HUMAN MOLECULAR GENETICS (2014)
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Jan Halbritter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
Genevieve Baujat et al.
JOURNAL OF MEDICAL GENETICS (2013)
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
Christian Thiel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Denise P. Cavalcanti et al.
JOURNAL OF MEDICAL GENETICS (2011)
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux et al.
NATURE GENETICS (2011)
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Nathalie Dagoneau et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Philip L. Beales et al.
NATURE GENETICS (2007)
分享论文
