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在“Elsevier电子期刊”中，命中：21条，耗时：0.0979375 秒

在所有数据库中总计命中：66条

1.Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance

作者：Frederic R. Acke^a ; ^{frederic.acke@ugent.be" class="auth_mail" title="E-mail the corresponding author} ; Ingeborg J. Dhooge^a ; Fransiska Malfait^b ; Els M.R. De Leenheer^a ; Guy A.M. De Pauw^c

关键词：Stickler syndrome ; Cephalometrics ; Micrognathia ; Pierre Robin sequence

刊名：Journal of Cranio-Maxillofacial Surgery

出版年：2016

2.Molecular genetics of the COL2A1-related disorders

作者：Hao Deng ; ¹ ; ^{hdeng008@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Xiangjun Huang¹ ; Lamei Yuan

关键词：COL2A1 ; the collagen type II alpha-1 gene ; OMIM ; Online Mendelian Inheritance in Man ; ACG2/HCG ; achondrogenesis type II/hypochondrogenesis ; PLSDT ; platyspondylic skeletal dysplasia ; Torrance type ; SPD ; spondyloperipheral dysplasia ; SEDC ; spondyloepiphyseal dysplasia congenita ; SEMDSTWK ; spondyloepimetaphyseal dysplasia ; Strudwick type ; STL1 ; Stickler syndrome type I ; DRRD ; dominantly inherited rhegmatogenous retinal detachment ; ANFH ; avascular necrosis of the femoral head ; LCPD ; Legg&ndash ; Calve

刊名：Mutation Research/Reviews in Mutation Research

出版年：2016

3.Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

作者：E. van Beelen ; J.M. Leijendeckers ; P.L.M. Huygen ; R.J.C. Admiraal ; L.H. Hoefsloot ; K.D. Lichtenbelt ; L. St?be ; R.J.E. Pennings ; R. Leuwer ; A.F.M. Snik ; H.P.M. Kunst

关键词：dB ; decibel ; DLF ; difference limen for frequency ; HL ; hearing level ; kHz ; kilohertz ; PTA ; pure tone average ; S/N ; signal to noise ; SNHL ; sensorineural hearing loss ; SRT ; speech reception threshold

刊名：Hearing Research

出版年：2012

4.Hypermobilit¨¦ du membre sup¨¦rieur (¨¦paule except¨¦e)

作者：Anne-Marie Vigneron ; Nathalie Legoupil ; Janine-Sophie Giraudet-Le Quintrec

关键词：Syndrome d&rsquo ; hypermobilité ; articulaire bé ; nigne ; Score de Beighton ; Critè ; res diagnostiques de Brighton ; Syndrome de Marfan ; Critè ; res de Ghent modifiés ; Douleurs chroniques

刊名：Revue du Rhumatisme Monographies

出版年：2012

5.A mouse model for Stickler's syndrome: Ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1)

作者：Kai Kaarniranta ; Tapio Ihanamä ; ki ; Janne Sahlman ; Hertta Pulkkinen ; Hannu Uusitalo ; Machiko Arita ; Raija Tammi ; Mikko J. Lammi and Heikki J. Helminen

关键词：collagen ; hyaluronan ; Stickler syndrome

刊名：Experimental Eye Research

出版年：2006

6.Clinical evaluation and COL2A1

作者：Roseli Maria Zechi-Ceide ; Né ; lio Aless ; o Jesus Oliveira ; Maria Leine Guion-Almeida ; Luí ; s Fern ; o B.B. Antunes ; Antonio Richieri-Costa ; Maria Rita Santos Passos-Bueno

关键词：Stickler syndrome ; COL2A1 gene mutation ; Collagen type II ; Cleft palate

刊名：European Journal of Medical Genetics

出版年：2008

7.The expression patterns of minor fibrillar collagens during development in zebrafish

作者：Ming Fang ; Jason S. Adams ; B. Lane Mcmahan ; Raquel J. Brown ; Julia Thom Oxford

关键词：Minor fibrillar collagens ; Zebrafish ; Development ; In situ hybridization ; Danio rerio

刊名：Gene Expression Patterns

出版年：2010

8.S¨ªndrome de Stickler

作者：Gabriel Riera Matute^a ; ^{grieramatute.girona.ics@gencat.cat} ; Elena Riera Alonso^b

关键词：Sí ; ndrome de Stickler ; Colagenosis hereditaria ; Displasia espondiloepifisaria

刊名：Seminarios de la Fundaci¨®n Espa?ola de Reumatolog¨ªa

出版年：2009

9.Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

作者：Alan Ang ; Arabella V. Poulson ; S ; y F. Goodburn ; Allan J. Richards ; John D. Scott ; Martin P. Snead

关键词：Parkinson's disease ; Tower of London ; Planning ; Problem structure

刊名：Ophthalmology

出版年：2008

10.Stickler syndrome type I and Stapes ankylosis

作者：Baijens ; Laura W.J. ; De Leenheer ; Els M.R. ; Weekamp ; Henrië ; tte H. ; Cruysberg ; Johannes R.M. ; et. al.

关键词：Stickler syndrome (SS) ; Conductive ; Mixed and sensorineural hearing loss ; Stapedectomy ; COL2A1 gene

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2004

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