Literature DB >> 16145814

Use of the term "Antley-Bixler syndrome": minimizing confusion.

Deborah Cragun, Robert J Hopkin.   

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Year:  2005        PMID： 16145814      PMCID： PMC1224535          DOI： 10.1086/432164

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


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  10 in total

1.  Patient described by Chun et al. may not present Antley-Bixler syndrome.

Authors:  R J Gorlin
Journal:  Am J Med Genet       Date:  1999-03-05

Review 2.  Not Antley-Bixler syndrome.

Authors:  K W Gripp; E H Zackai; M M Cohen
Journal:  Am J Med Genet       Date:  1999-03-05

3.  Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Authors:  W Reardon; A Smith; J W Honour; P Hindmarsh; D Das; G Rumsby; I Nelson; S Malcolm; L Adès; D Sillence; D Kumar; C DeLozier-Blanchet; S McKee; T Kelly; W L McKeehan; M Baraitser; R M Winter
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

4.  Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.

Authors:  R Antley; D Bixler
Journal:  Birth Defects Orig Artic Ser       Date:  1975

5.  Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Authors:  Ningwu Huang; Amit V Pandey; Vishal Agrawal; William Reardon; Pablo D Lapunzina; David Mowat; Ethylin Wang Jabs; Guy Van Vliet; Joseph Sack; Christa E Flück; Walter L Miller
Journal:  Am J Hum Genet       Date:  2005-03-25       Impact factor: 11.025

6.  Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Authors:  Maki Fukami; Reiko Horikawa; Toshiro Nagai; Toshiaki Tanaka; Yasuhiro Naiki; Naoko Sato; Torayuki Okuyama; Hideo Nakai; Shun Soneda; Katsuhiko Tachibana; Nobutake Matsuo; Seiji Sato; Keiko Homma; Gen Nishimura; Tomonobu Hasegawa; Tsutomu Ogata
Journal:  J Clin Endocrinol Metab       Date:  2004-10-13       Impact factor: 5.958

7.  Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Authors:  Deborah L Cragun; Sharon K Trumpy; Cedric H L Shackleton; Richard I Kelley; Nancy D Leslie; Neil P Mulrooney; Robert J Hopkin
Journal:  Am J Med Genet A       Date:  2004-08-15       Impact factor: 2.802

8.  Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

Authors:  Christa E Flück; Toshihro Tajima; Amit V Pandey; Wiebke Arlt; Kouji Okuhara; Charles F Verge; Ethylin Wang Jabs; Berenice B Mendonça; Kenji Fujieda; Walter L Miller
Journal:  Nat Genet       Date:  2004-02-01       Impact factor: 38.330

9.  Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.

Authors:  Wiebke Arlt; Elizabeth A Walker; Nicole Draper; Hannah E Ivison; Jon P Ride; Fabian Hammer; Susan M Chalder; Maria Borucka-Mankiewicz; Berthold P Hauffa; Ewa M Malunowicz; Paul M Stewart; Cedric H L Shackleton
Journal:  Lancet       Date:  2004-06-26       Impact factor: 79.321

10.  Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.

Authors:  Cedric Shackleton; Josep Marcos; Ewa M Malunowicz; Maria Szarras-Czapnik; Petr Jira; Norman F Taylor; Nuala Murphy; Ellen Crushell; Michael Gottschalk; Berthold Hauffa; Deborah L Cragun; Robert J Hopkin; Masanori Adachi; Wiebke Arlt
Journal:  Am J Med Genet A       Date:  2004-07-30       Impact factor: 2.802
  10 in total
  1 in total

1.  Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency.

Authors:  Dunia Sánchez-Garvín; Sonia Albaladejo; Begoña Ezquieta; Raquel Corripio
Journal:  BMJ Case Rep       Date:  2013-07-22
  1 in total

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