Literature DB >> 16894539

XX male with sex reversal and a de novo 11;22 translocation.

Merryn V E Macville1, Wim H Loneus, Dominique Marcus-Soekarman, Erik H L P G Huys, Eric F P M Schoenmakers, April Schrank-Hacker, Beverly S Emanuel, John J M Engelen.   

Abstract

Mesh：

Year:  2006        PMID： 16894539      PMCID： PMC2818516          DOI： 10.1002/ajmg.a.31397

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  15 in total

1.  Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Authors:  T H Shaikh; M L Budarf; L Celle; E H Zackai; B S Emanuel
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  True hermaphroditism with partial duplication of chromosome 22 and without SRY.

Authors:  K A Aleck; L Argueso; J Stone; J G Hackel; R P Erickson
Journal:  Am J Med Genet       Date:  1999-07-02

3.  A set of BAC clones spanning the human genome.

Authors:  Martin Krzywinski; Ian Bosdet; Duane Smailus; Readman Chiu; Carrie Mathewson; Natasja Wye; Sarah Barber; Mabel Brown-John; Susanna Chan; Steve Chand; Alison Cloutier; Noreen Girn; Darlene Lee; Amara Masson; Michael Mayo; Teika Olson; Pawan Pandoh; Anna-Liisa Prabhu; Eric Schoenmakers; Miranda Tsai; Donna Albertson; Wan Lam; Chik-On Choy; Kazutoyo Osoegawa; Shaying Zhao; Pieter J de Jong; Jacqueline Schein; Steven Jones; Marco A Marra
Journal:  Nucleic Acids Res       Date:  2004-07-09       Impact factor: 16.971

4.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

5.  Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.

Authors:  E H Zackai; B S Emanuel
Journal:  Am J Med Genet       Date:  1980

6.  Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

Authors:  A Schinzel; W Schmid; P Auf der Maur; H Moser; K H Degenhardt; M Geisler; A Grubisic
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  The 11q;22q translocation: a European collaborative analysis of 43 cases.

Authors:  M Fraccaro; J Lindsten; C E Ford; L Iselius
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  Fine mapping of the constitutional translocation t(11;22)(q23;q11).

Authors:  I Tapia-Páez; K P O'Brien; M Kost-Alimova; S Sahlén; D Kedra; C E Bruder; B Andersson; B A Roe; P Hu; S Imreh; E Blennow; J P Dumanski
Journal:  Hum Genet       Date:  2000-05       Impact factor: 4.132

9.  Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.

Authors:  C Chieffo; N Garvey; W Gong; B Roe; G Zhang; L Silver; B S Emanuel; M L Budarf
Journal:  Genomics       Date:  1997-08-01       Impact factor: 5.736

10.  Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.

Authors:  S A Berend; A S Spikes; C D Kashork; J M Wu; S C Daw; P J Scambler; L G Shaffer
Journal:  Am J Med Genet       Date:  2000-04-10
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  1 in total

1.  Paternal origin of the de novo constitutional t(11;22)(q23;q11).

Authors:  Tamae Ohye; Hidehito Inagaki; Hiroshi Kogo; Makiko Tsutsumi; Takema Kato; Maoqing Tong; Merryn V E Macville; Livija Medne; Elaine H Zackai; Beverly S Emanuel; Hiroki Kurahashi
Journal:  Eur J Hum Genet       Date:  2010-02-24       Impact factor: 4.246
  1 in total

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