Literature DB >> 12414828

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

P Debeer, C Bacchelli, P J Scambler, L De Smet, J-P Fryns, F R Goodman.   

Abstract

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Year:  2002        PMID： 12414828      PMCID： PMC1735011          DOI： 10.1136/jmg.39.11.852

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  22 in total

Review 1.  Sometimes the result is not the answer: the truths and the lies that come from using the complementation test.

Authors:  R Scott Hawley; William D Gilliland
Journal:  Genetics       Date:  2006-09       Impact factor: 4.562

Review 2.  Molecular basis for skeletal variation: insights from developmental genetic studies in mice.

Authors:  C Kappen; A Neubüser; R Balling; R Finnell
Journal:  Birth Defects Res B Dev Reprod Toxicol       Date:  2007-12

3.  Unilateral notomelia in a newborn Holstein calf.

Authors:  Tammy L Muirhead; LeeAnn Pack; Catherine L Radtke
Journal:  Can Vet J       Date:  2014-07       Impact factor: 1.008

4.  Breakpoints around the HOXD cluster result in various limb malformations.

Authors:  B Dlugaszewska; A Silahtaroglu; C Menzel; S Kübart; M Cohen; S Mundlos; Z Tümer; K Kjaer; U Friedrich; H-H Ropers; N Tommerup; H Neitzel; V M Kalscheuer
Journal:  J Med Genet       Date:  2005-06-24       Impact factor: 6.318

5.  Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

Authors:  Xiuli Zhao; Miao Sun; Jin Zhao; J Alfonso Leyva; Hongwen Zhu; Wei Yang; Xuan Zeng; Yang Ao; Qing Liu; Guoyang Liu; Wilson H Y Lo; Ethylin Wang Jabs; L Mario Amzel; Xiangnian Shan; Xue Zhang
Journal:  Am J Hum Genet       Date:  2007-01-03       Impact factor: 11.025

6.  A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.

Authors:  Elisa M Jorgensen; Jane I Ruman; Leo Doherty; Hugh S Taylor
Journal:  Fertil Steril       Date:  2009-07-09       Impact factor: 7.329

7.  Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Authors:  David Johnson; Shih-Hsin Kan; Michael Oldridge; Richard C Trembath; Philippe Roche; Robert M Esnouf; Henk Giele; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2003-03-14       Impact factor: 11.025

8.  Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Authors:  Stephen R F Twigg; Sarah L Versnel; Gudrun Nürnberg; Melissa M Lees; Meenakshi Bhat; Peter Hammond; Raoul C M Hennekam; A Jeannette M Hoogeboom; Jane A Hurst; David Johnson; Alexis A Robinson; Peter J Scambler; Dianne Gerrelli; Peter Nürnberg; Irene M J Mathijssen; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2009-04-30       Impact factor: 11.025

9.  Deciphering the mutational signature of congenital limb malformations.

Authors:  Liying Sun; Yingzhao Huang; Sen Zhao; Junhui Zhao; Zihui Yan; Yang Guo; Mao Lin; Wenyao Zhong; Yuehan Yin; Zefu Chen; Nan Zhang; Yuanqiang Zhang; Zongxuan Zhao; Qingyang Li; Lianlei Wang; Xiying Dong; Yaqi Li; Xiaoxin Li; Guixing Qiu; Terry Jianguo Zhang; Zhihong Wu; Wen Tian; Nan Wu
Journal:  Mol Ther Nucleic Acids       Date:  2021-04-20       Impact factor: 8.886

10.  Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.

Authors:  Paola Pontecorvi; Francesca Megiorni; Simona Camero; Simona Ceccarelli; Laura Bernardini; Anna Capalbo; Eleni Anastasiadou; Giulia Gerini; Elena Messina; Giorgia Perniola; Pierluigi Benedetti Panici; Paola Grammatico; Antonio Pizzuti; Cinzia Marchese
Journal:  Biology (Basel)       Date:  2021-05-21
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