Literature DB >> 22405083

2011 William Allan Award introduction: John M. Opitz.

Maximilian Muenke1.   

Abstract

Mesh：

Year:  2012        PMID： 22405083      PMCID： PMC3309199          DOI： 10.1016/j.ajhg.2012.01.011

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

1.  A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

Authors:  D W SMITH; L LEMLI; J M OPITZ
Journal:  J Pediatr       Date:  1964-02       Impact factor: 4.406

2.  Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

Authors:  J M Opitz; E G Kaveggia
Journal:  Z Kinderheilkd       Date:  1974-04-08

3.  The developmental field concept.

Authors:  J M Opitz
Journal:  Am J Med Genet       Date:  1985-05

Review 4.  Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.

Authors:  M Münke; B S Emanuel; E H Zackai
Journal:  Am J Med Genet       Date:  1988-08

5.  The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.

Authors:  J Herrmann; P D Pallister; W Tiddy; J M Opitz
Journal:  Birth Defects Orig Artic Ser       Date:  1975

6.  A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Authors:  Hiba Risheg; John M Graham; Robin D Clark; R Curtis Rogers; John M Opitz; John B Moeschler; Andreas P Peiffer; Melanie May; Sumy M Joseph; Julie R Jones; Roger E Stevenson; Charles E Schwartz; Michael J Friez
Journal:  Nat Genet       Date:  2007-03-04       Impact factor: 38.330

7.  Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Authors:  Asli Sirmaci; Michail Spiliopoulos; Francesco Brancati; Eric Powell; Duygu Duman; Alex Abrams; Guney Bademci; Emanuele Agolini; Shengru Guo; Berrin Konuk; Asli Kavaz; Susan Blanton; Maria Christina Digilio; Bruno Dallapiccola; Juan Young; Stephan Zuchner; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2011-07-21       Impact factor: 11.025

8.  Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Authors:  Tadashi Kaname; Kumiko Yanagi; Yasutsugu Chinen; Yoshio Makita; Nobuhiko Okamoto; Hiroki Maehara; Ichiro Owan; Fuminori Kanaya; Yoshiaki Kubota; Yuichi Oike; Toshiyuki Yamamoto; Kenji Kurosawa; Yoshimitsu Fukushima; Axel Bohring; John M Opitz; Ko-Ichiro Yoshiura; Norio Niikawa; Kenji Naritomi
Journal:  Am J Hum Genet       Date:  2007-08-27       Impact factor: 11.025

9.  The developmental field concept in clinical genetics.

Authors:  J M Opitz
Journal:  J Pediatr       Date:  1982-11       Impact factor: 4.406

10.  Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Authors:  N A Quaderi; S Schweiger; K Gaudenz; B Franco; E I Rugarli; W Berger; G J Feldman; M Volta; G Andolfi; S Gilgenkrantz; R W Marion; R C Hennekam; J M Opitz; M Muenke; H H Ropers; A Ballabio
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330
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