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Wiley电子期刊(4)	SpringerLink电子期刊(68)	Elsevier电子期刊(112)
Springer电子图书(1)	NATURE电子期刊(5)

在“Elsevier电子期刊”中，命中：112条，耗时：0.0169916 秒

在所有数据库中总计命中：190条

1.Atteinte rénale au cours du syndrome de Bardet-Biedl

作者：E. Felah¹ ; ^{eya.fh.ba@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; S. Barbouch¹ ; A. Harzallah¹ ; R. Aouidia¹ ; H. Kaaroud¹ ; H. Hedri¹ ; E. Abderrahim¹ ; R. Goucha² ; F. Ben Hmida¹ ; ² ; K. Ben Abdelghani¹ ; I. Ghorsane¹ ; T. Ben Abdallah¹

刊名：Néphrologie Thérapeutique

出版年：2016

2.Bardet-Biedl syndrome: Is it only cilia dysfunction?

作者：Rossina Novas^a ; Magdalena Cardenas-Rodriguez^a ; Florencia Irigoí ; n^a ; ^b ; Jose L. Badano^a ; ^{jbadano@pasteur.edu.uy" class="auth_mail" title="E-mail the corresponding author}

关键词：Bardet&ndash ; Biedl syndrome ; Cilia ; Ciliopathies

刊名：FEBS Letters

出版年：2015

3.Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

作者：Asli Ece Solmaz^a ; ^{as_ece@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Huseyin Onay^a ; Tahir Atik^b ; Ayca Aykut^a ; Meltem Cerrah Gunes^c ; Ozge Ozalp Yuregir^d ; Veysel Nijat Bas^e ; Filiz Hazan^f ; Ozgur Kirbiyik^g ; Ferda Ozkinay^a ; ^b

关键词：Bardet-Biedl syndrome ; Next-generation sequencing ; Mutation ; Phenotype&ndash ; genotype correlation

刊名：European Journal of Medical Genetics

出版年：2015

4.Modulation of primary cilia length by melanin-concentrating hormone receptor 1

作者：Akie Hamamoto^a ; ¹ ; Shogo Yamato^a ; ¹ ; Yohei Katoh^b ; Kazuhisa Nakayama^b ; Kentaro Yoshimura^c ; Sen Takeda^c ; Yuki Kobayashi^a ; Yumiko Saito^a ; ^{yumist@hiroshima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：AcTub ; acetylated α-tubulin ; BBS ; Bardet&ndash ; Biedl syndrome ; βARKct ; beta-adrenergic receptor kinase carboxyl-terminus ; cAMP ; cyclic AMP ; C-tail ; C-terminal tail ; Epac ; exchange protein directly activated by cAMP ; ERK ; extracellular signal-regulated kinase ; GPCR ; G-protein-coupled receptor ; GSK3β ; glycogen synthase kinase 3β ; hRPE1 cells ; hTERT-RPE1 cells ; IFT ; intraflagellar transport ; IM ; ionomycin ; MCH ; melanin-concentrating hormone ; MCHR ; melanin-concentrating hormone receptor ; PGE2 ; prost

刊名：Cellular Signalling

出版年：2016

5.Non-essential role for cilia in coordinating precise alignment of lens fibres

作者：Yuki Sugiyama^a ; ^{yuki.sugiyama@sydney.edu.au" class="auth_mail" title="E-mail the corresponding author} ; Elizabeth J. Shelley^a ; Bradley K. Yoder^b ; Zbynek Kozmik^c ; Helen L. May-Simera^d ; Philip L. Beales^e ; Frank J. Lovicu^f ; John W. McAvoy^a

关键词：Lens ; Primary cilium ; IFT88 ; Bardet&ndash ; Biedl Syndrome (BBS) ; Planar cell polarity (PCP)

刊名：Mechanisms of Development

出版年：2016

6.An age of enlightenment for cilia: The FASEB summer research conference on the “Biology of Cilia and Flagella”

作者：Pamela V. Tran^a ; ^{ptran@kumc.edu" class="auth_mail" title="E-mail the corresponding author} ; Karl F. Lechtreck^b ; ^{lechtrek@uga.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Arl3 ; Arl13b ; Axoneme ; Bardet&ndash ; Biedl syndrome (BBS) ; Calcium ; Ciliopathy ; Ciliary membrane ; Craniofacial defects ; Diabetes ; Dynein ; GPCR ; Hedgehog signaling ; Intraflagellar transport (IFT) ; Motility ; NPHP ; Obesity ; Phosphoinositide ; Polycystin ; Transition zone ; Tubulin

刊名：Developmental Biology

出版年：2016

7.Bifid epiglottis as a cause of recurrent pneumonia in a patient with Bardet-Biedl syndrome, a ciliopathy

作者：Elizabeth Copenhaver^a ; Samantha Hanna^b ; ; Nicholas Mulhearn^c ; Safina Kureshi^d ; Myra Chiang^e ; Kevin Maupin^d

关键词：Bardet-Biedel syndrome ; Bifid ; Epiglottis ; Ciliopathy

刊名：International Journal of Pediatric Otorhinolaryngology Extra

出版年：2015

8.Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice

作者：Jiangsong Jiang^a ; ^{jiangj2@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Kanyarat Promchan^a ; Hong Jiang^a ; ^# ; Parirokh Awasthi^b ; Heather Marshall^a ; Adam Harned^c ; Ven Natarajan^a ; ^{Vnatarajan@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：LZTFL1 ; Cilium ; BBSome ; BBS17 ; Retina ; AP-1

刊名：Journal of Genetics and Genomics

出版年：2016

9.Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing

关键词：Ciliopathy ; Joubert syndrome and related disorders ; Bardet-Biedl syndrome ; Meckel syndrome ; Homozygosity mapping ; Mutation frequencies

刊名：Molecular and Cellular Probes

出版年：2015

10.Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome

作者：Saadullah Khan^a ; Imran Ullah^a ; Irfanullah^a ; Muhammad Touseef^b ; Sulman Basit^a ; Muhammad Nasim Khan^b ; Wasim Ahmad^a ; ^{wahmad@qau.edu.pk}

关键词：BBS ; Bardet&ndash ; Biedl syndrome ; MKS1 ; Meckel syndrome ; CEP290 ; centrosomal protein 290 ; kDa ; PCR ; polymerase chain reaction ; dNTP ; deoxynucleoside triphosphate ; RP ; retinitis pigmentosa ; BLAST ; basic local alignment search tool ; DNA ; deoxyribonuclei

刊名：Gene

出版年：2013

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