Literature DB >> 1190170

The Opitz trigonocephaly syndrome. A case report.

F Oberklaid, D M Danks.   

Abstract

This is the third report, to our knowledge, of a baby with Opitz trigonocephaly syndrome of multiple congenital abnormalities. The unusual facial and palatal abnormalities are diagnostic.

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Mesh：

Year:  1975        PMID： 1190170     DOI： 10.1001/archpedi.1975.02120480062016

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


  8 in total

1.  De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Authors:  Alexander Hoischen; Bregje W M van Bon; Benjamín Rodríguez-Santiago; Christian Gilissen; Lisenka E L M Vissers; Petra de Vries; Irene Janssen; Bart van Lier; Rob Hastings; Sarah F Smithson; Ruth Newbury-Ecob; Susanne Kjaergaard; Judith Goodship; Ruth McGowan; Deborah Bartholdi; Anita Rauch; Maarit Peippo; Jan M Cobben; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Joris A Veltman; Han G Brunner; Bert B B A de Vries
Journal:  Nat Genet       Date:  2011-06-26       Impact factor: 38.330

2.  Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Authors:  Bianca Russell; Jennifer J Johnston; Leslie G Biesecker; Nancy Kramer; Angela Pickart; William Rhead; Wen-Hann Tan; Catherine A Brownstein; L Kate Clarkson; Amy Dobson; Avi Z Rosenberg; Samantha A Schrier Vergano; Benjamin M Helm; Rachel E Harrison; John M Graham
Journal:  Am J Med Genet A       Date:  2015-04-29       Impact factor: 2.802

Review 3.  Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Authors:  Rob Hastings; Jan-Maarten Cobben; Gabriele Gillessen-Kaesbach; Judith Goodship; Hanne Hove; Susanne Kjaergaard; Helena Kemp; Helen Kingston; Peter Lunt; Sahar Mansour; Ruth McGowan; Kay Metcalfe; Catherine Murdoch-Davis; Mary Ray; Marlène Rio; Sarah Smithson; John Tolmie; Peter Turnpenny; Bregje van Bon; Dagmar Wieczorek; Ruth Newbury-Ecob
Journal:  Eur J Hum Genet       Date:  2011-02-02       Impact factor: 4.246

4.  Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Authors:  Alma Kuechler; Johanna Christina Czeschik; Elisabeth Graf; Ute Grasshoff; Ulrike Hüffmeier; Tiffany Busa; Stefanie Beck-Woedl; Laurence Faivre; Jean-Baptiste Rivière; Ingrid Bader; Johannes Koch; André Reis; Ute Hehr; Olaf Rittinger; Wolfgang Sperl; Tobias B Haack; Thomas Wieland; Hartmut Engels; Holger Prokisch; Tim M Strom; Hermann-Josef Lüdecke; Dagmar Wieczorek
Journal:  Eur J Hum Genet       Date:  2016-11-30       Impact factor: 4.246

Review 5.  Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk.

Authors:  Jenna A Fernandez; Mrinal M Patnaik
Journal:  Curr Hematol Malig Rep       Date:  2022-06-02       Impact factor: 4.213

6.  Optiz trigonocephaly syndrome: report of two cases.

Authors:  S D Flatz; A Schinzel; E Doehring; D Kamran; E Eilers
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

7.  Trigonocephaly and the Opitz C syndrome.

Authors:  C Sargent; J Burn; M Baraitser; M E Pembrey
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

8.  Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice.

Authors:  Peng Zhang; Caihong Xing; Steven D Rhodes; Yongzheng He; Kai Deng; Zhaomin Li; Fuhong He; Caiying Zhu; Lihn Nguyen; Yuan Zhou; Shi Chen; Khalid S Mohammad; Theresa A Guise; Omar Abdel-Wahab; Mingjiang Xu; Qian-Fei Wang; Feng-Chun Yang
Journal:  Stem Cell Reports       Date:  2016-05-26       Impact factor: 7.765
  8 in total

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