Literature DB >> 7131178

The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes.

J C Carey, R M Fineman, F A Ziter.   

Abstract

The Robin sequence is a pathogenetically and etiologically heterogeneous conditions that can be an isolated defect or one feature of many different syndromes. The association of this pattern of malformation with neuromuscular conditions has been alluded to in the literature but not well documented. We report a family with a distinct neuromuscular condition that includes the Robin sequence and discuss the human syndromes and animal models in which the Robin sequence occurs.

Entities:  

Mesh：

Year:  1982        PMID： 7131178     DOI： 10.1016/s0022-3476(82)80348-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  13 in total

1.  Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Authors:  Aida Telegrafi; Bryn D Webb; Sarah M Robbins; Carlos E Speck-Martins; David FitzPatrick; Leah Fleming; Richard Redett; Andreas Dufke; Gunnar Houge; Jeske J T van Harssel; Alain Verloes; Angela Robles; Irini Manoli; Elizabeth C Engle; Ethylin W Jabs; David Valle; John Carey; Julie E Hoover-Fong; Nara L M Sobreira
Journal:  Am J Med Genet A       Date:  2017-08-04       Impact factor: 2.802

Review 2.  The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome.

Authors:  W Müller; H H Peter; M Wilken; H Jüppner; H C Kallfelz; H P Krohn; K Miller; C H Rieger
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

3.  Loss of Myomixer Results in Defective Myoblast Fusion, Impaired Muscle Growth, and Severe Myopathy in Zebrafish.

Authors:  Ping Wu; Pengzheng Yong; Zhanxiong Zhang; Rui Xu; Renjie Shang; Jun Shi; Jianshe Zhang; Pengpeng Bi; Elizabeth Chen; Shaojun Du
Journal:  Mar Biotechnol (NY)       Date:  2022-09-09       Impact factor: 3.727

4.  The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.

Authors:  W G Cole; R K Hall; J G Rogers
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

5.  Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.

Authors:  Neda Sadeghi; Elizabeth Hutchinson; Carol Van Ryzin; Edmond J FitzGibbon; John A Butman; Bryn D Webb; Flavia Facio; Brian P Brooks; Francis S Collins; Ethylin Wang Jabs; Elizabeth C Engle; Irini Manoli; Carlo Pierpaoli
Journal:  Brain Commun       Date:  2020-02-14

6.  Polysomnography-guided mandibular distraction osteogenesis in Pierre Robin sequence patients.

Authors:  Rashi Kochhar; Vikash Modi; Neranjan de Silva; Seyni Gueye-Ndiaye; Jay M Neugarten; Mary J Ward; Linda M Gerber; Anjile An; Elizabeth Mauer; Haviva Veler
Journal:  J Clin Sleep Med       Date:  2022-07-01       Impact factor: 4.324

7.  The Role of Skeletal Muscle in External Ear Development: A Mouse Model Histomorphometric Study.

Authors:  Paul Hong; Irena Rot; Boris Kablar
Journal:  Plast Reconstr Surg Glob Open       Date:  2015-06-05

8.  A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Authors:  Silvio Alessandro Di Gioia; Samantha Connors; Norisada Matsunami; Jessica Cannavino; Matthew F Rose; Nicole M Gilette; Pietro Artoni; Nara Lygia de Macena Sobreira; Wai-Man Chan; Bryn D Webb; Caroline D Robson; Long Cheng; Carol Van Ryzin; Andres Ramirez-Martinez; Payam Mohassel; Mark Leppert; Mary Beth Scholand; Christopher Grunseich; Carlos R Ferreira; Tyler Hartman; Ian M Hayes; Tim Morgan; David M Markie; Michela Fagiolini; Amy Swift; Peter S Chines; Carlos E Speck-Martins; Francis S Collins; Ethylin Wang Jabs; Carsten G Bönnemann; Eric N Olson; John C Carey; Stephen P Robertson; Irini Manoli; Elizabeth C Engle
Journal:  Nat Commun       Date:  2017-07-06       Impact factor: 14.919

9.  Genetics and management of the patient with orofacial cleft.

Authors:  Luciano Abreu Brito; Joanna Goes Castro Meira; Gerson Shigeru Kobayashi; Maria Rita Passos-Bueno
Journal:  Plast Surg Int       Date:  2012-11-01

10.  [The Tübingen palatal plate--an innovative therapeutic concept in Pierre-Robin sequence].

Authors:  Anette von Bodman; Wolfgang Buchenau; Margit Bacher; Jörg Arand; Michael S Urschitz; Christian F Poets
Journal:  Wien Klin Wochenschr       Date:  2003-12-30       Impact factor: 2.275
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