Literature DB >> 5771504

A newly recognized dwarfing syndrome.

M Robinow, F N Silverman, H D Smith.   

Abstract

Mesh：

Year:  1969        PMID： 5771504     DOI： 10.1001/archpedi.1969.02100030647005

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  45 in total

Review 1.  Robinow syndrome.

Authors:  M A Patton; A R Afzal
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

2.  Robinow syndrome in two siblings from consanguineous parents.

Authors:  D F Schorderet; S Dahoun; I Defrance; D Nusslé; M A Morris
Journal:  Eur J Pediatr       Date:  1992-08       Impact factor: 3.183

Review 3.  Planar cell polarity signaling in craniofacial development.

Authors:  Jacek Topczewski; Rodney M Dale; Barbara E Sisson
Journal:  Organogenesis       Date:  2011-10-01       Impact factor: 2.500

4.  Unusual traits associated with Robinow syndrome.

Authors:  M A Sabry; E A Ismail; R L al-Naggar; N A al-Torki; S Farah; S A al-Awadi; D Obenbergerova; L Bastaki
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

Review 5.  Wnt signaling through the Ror receptor in the nervous system.

Authors:  Iveta M Petrova; Martijn J Malessy; Joost Verhaagen; Lee G Fradkin; Jasprina N Noordermeer
Journal:  Mol Neurobiol       Date:  2013-08-30       Impact factor: 5.590

6.  Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency.

Authors:  E Schönau; R A Pfeiffer; H U Schweikert; B Böwing; G Schott
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183

7.  DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

Authors:  Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hülya Kayserili; Elicia Estrella; Anneke T Vulto-van Silfhout; Marloes Steehouwer; Donna M Muzny; V Reid Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; Claudia M B Carvalho
Journal:  Am J Hum Genet       Date:  2015-03-26       Impact factor: 11.025

8.  DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

Authors:  Janson J White; Juliana F Mazzeu; Alexander Hoischen; Yavuz Bayram; Marjorie Withers; Alper Gezdirici; Virginia Kimonis; Marloes Steehouwer; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; Bregje W M van Bon; V Reid Sutton; James R Lupski; Han G Brunner; Claudia M B Carvalho
Journal:  Am J Hum Genet       Date:  2016-02-25       Impact factor: 11.025

9.  Disulfide bond requirements for active Wnt ligands.

Authors:  Bryan T MacDonald; Annie Hien; Xinjun Zhang; Oladoyin Iranloye; David M Virshup; Marian L Waterman; Xi He
Journal:  J Biol Chem       Date:  2014-05-19       Impact factor: 5.157

10.  Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Authors:  Ashley M Byrnes; Lemuel Racacho; Allison Grimsey; Louanne Hudgins; Andrea C Kwan; Michel Sangalli; Alexa Kidd; Yuval Yaron; Yu-Lung Lau; Sarah M Nikkel; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246
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