Literature DB >> 4298043

[Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia].

A Cenani, W Lenz.   

Abstract

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Year:  1967        PMID: 4298043

Source DB:  PubMed          Journal:  Z Kinderheilkd        ISSN: 0044-2917


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  15 in total

1.  Case report 636. Tetrapolysyndactyly with postaxial type of polydactyly.

Authors:  R N Sener
Journal:  Skeletal Radiol       Date:  1990       Impact factor: 2.199

2.  LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Authors:  Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hülya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Pete Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2010-04-08       Impact factor: 11.025

3.  Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side.

Authors:  Saleem Ahmed; Jumana Yousef Al-Aama
Journal:  BMJ Case Rep       Date:  2012-07-13

4.  Disruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels.

Authors:  Ming-Kang Chang; Ina Kramer; Thomas Huber; Bernd Kinzel; Sabine Guth-Gundel; Olivier Leupin; Michaela Kneissel
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-17       Impact factor: 11.205

5.  Correlative roentgenography and morphology of the longitudinal epiphyseal bracket.

Authors:  J A Ogden; T R Light; G J Conlogue
Journal:  Skeletal Radiol       Date:  1981       Impact factor: 2.199

6.  Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Authors:  Rivka Sukenik Halevy; Huan-Chieh Chien; Bo Heinz; Michael J Bamshad; Deborah A Nickerson; Martin Kircher; Nadav Ahituv
Journal:  Hum Mutat       Date:  2018-03-22       Impact factor: 4.878

7.  Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development.

Authors:  Jing Tian; Jinhui Shao; Cong Liu; Hsin-Yu Hou; Chih-Wei Chou; Mohammad Shboul; Guo-Qing Li; Mohammad El-Khateeb; Omar Q Samarah; Yao Kou; Yu-Hsuan Chen; Mei-Jen Chen; Zhaojie Lyu; Wei-Leng Chen; Yu-Fu Chen; Yong-Hua Sun; Yi-Wen Liu
Journal:  Cell Mol Life Sci       Date:  2018-10-16       Impact factor: 9.261

Review 8.  Syndactyly: phenotypes, genetics and current classification.

Authors:  Sajid Malik
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

9.  Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.

Authors:  P Dodinval
Journal:  Hum Genet       Date:  1979-04-27       Impact factor: 4.132

10.  Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Authors:  Sajid Malik; Ferda E Percin; Dorothea Bornholdt; Beate Albrecht; Antonio Percesepe; Manuela C Koch; Antonio Landi; Barbara Fritz; Rizwan Khan; Sara Mumtaz; Nurten A Akarsu; Karl-Heinz Grzeschik
Journal:  Am J Hum Genet       Date:  2014-11-13       Impact factor: 11.025

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