Literature DB >> 8064818

Saethre-Chotzen syndrome.

W Reardon1, R M Winter.   

Abstract

Mesh：

Year:  1994        PMID： 8064818      PMCID： PMC1049872          DOI： 10.1136/jmg.31.5.393

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


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  16 in total

1.  Acrocephalopolysyndactyly, type Noack, in a large kindred.

Authors:  M Robinow; T J Sorauf
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

Authors:  D J Aughton; S B Cassidy; D A Whiteman; J A Delach; A E Guttmacher
Journal:  Am J Med Genet       Date:  1991-09-15

3.  Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.

Authors:  T W Kurczynski; S M Casperson
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

4.  Pfeiffer syndrome: report of a family and review of the literature.

Authors:  Y Naveh; A Friedman
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

5.  The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.

Authors:  Z Kopyść; M Stańska; J Ryzko; B Kulczyk
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

Authors:  L A Brueton; L van Herwerden; K A Chotai; R M Winter
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

7.  Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.

Authors:  C E BLANK
Journal:  Ann Hum Genet       Date:  1960-05       Impact factor: 1.670

8.  Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

Authors:  E Legius; J P Fryns; H Van den Berghe
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

9.  A family study of craniosynostosis, with probable recognition of a distinct syndrome.

Authors:  C O Carter; K Till; V Fraser; R Coffey
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

10.  An unusual form of familial acrocephalosyndactyly.

Authors:  I D Young; P S Harper
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318
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  19 in total

1.  Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Authors:  W Reardon; D Wilkes; P Rutland; L J Pulleyn; S Malcolm; J C Dean; R D Evans; B M Jones; R Hayward; C M Hall; N C Nevin; M Baraister; R M Winter
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Basic helix-loop-helix transcription factor Twist1 inhibits transactivator function of master chondrogenic regulator Sox9.

Authors:  Shoujun Gu; Thomas G Boyer; Michael C Naski
Journal:  J Biol Chem       Date:  2012-04-24       Impact factor: 5.157

3.  Twist1 function in endocardial cushion cell proliferation, migration, and differentiation during heart valve development.

Authors:  Elaine L Shelton; Katherine E Yutzey
Journal:  Dev Biol       Date:  2008-02-29       Impact factor: 3.582

Review 4.  Craniofacial malformations and their association with brain development: the importance of a multidisciplinary approach for treatment.

Authors:  Asher Ornoy
Journal:  Odontology       Date:  2019-06-06       Impact factor: 2.634

5.  Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

Authors:  A O Wilkie; S P Yang; D Summers; M D Poole; W Reardon; R M Winter
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

6.  The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.

Authors:  K Tsuji; K Narahara; Y Yokoyama; K H Grzeschik; J Kunz
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

7.  Molecular studies on the roles of Runx2 and Twist1 in regulating FGF signaling.

Authors:  Yongbo Lu; Yucheng Li; Adriana C Cavender; Suzhen Wang; Alka Mansukhani; Rena N D'Souza
Journal:  Dev Dyn       Date:  2012-09-17       Impact factor: 3.780

8.  Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.

Authors:  Eunhe Cho; Tae Hwan Yang; Eun-Sim Shin; Jung Hye Byeon; Gun-Ha Kim; Baik-Lin Eun
Journal:  Childs Nerv Syst       Date:  2013-11       Impact factor: 1.475

9.  Inducible knockout of Twist1 in young and adult mice prolongs hair growth cycle and has mild effects on general health, supporting Twist1 as a preferential cancer target.

Authors:  Yan Xu; Yixiang Xu; Lan Liao; Niya Zhou; Sarah M Theissen; Xin-Hua Liao; Hoang Nguyen; Thomas Ludwig; Li Qin; Jarrod D Martinez; Jun Jiang; Jianming Xu
Journal:  Am J Pathol       Date:  2013-07-30       Impact factor: 4.307

10.  A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Authors:  D Johnson; S W Horsley; D M Moloney; M Oldridge; S R Twigg; S Walsh; M Barrow; P R Njølstad; J Kunz; G J Ashworth; S A Wall; L Kearney; A O Wilkie
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025
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