Literature DB >> 8266989

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.

C S Reid1, L E McMorrow, D M McDonald-McGinn, K J Grace, F J Ramos, E H Zackai, M M Cohen, E W Jabs.   

Abstract

Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre-Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.

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Year:  1993        PMID： 8266989     DOI： 10.1002/ajmg.1320470511

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 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.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Authors:  M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

3.  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

Review 4.  Saethre-Chotzen syndrome.

Authors:  W Reardon; R M Winter
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

5.  Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.

Authors:  A F Lewanda; E D Green; J Weissenbach; H Jerald; E Taylor; M L Summar; J A Phillips; M Cohen; M Feingold; W Mouradian
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

Review 6.  Craniosynostosis: molecular pathways and future pharmacologic therapy.

Authors:  Kshemendra Senarath-Yapa; Michael T Chung; Adrian McArdle; Victor W Wong; Natalina Quarto; Michael T Longaker; Derrick C Wan
Journal:  Organogenesis       Date:  2012-10-01       Impact factor: 2.500

7.  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

8.  Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

Authors:  L van Herwerden; C S Rose; W Reardon; L A Brueton; J Weissenbach; S Malcolm; R M Winter
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

9.  Molecular basis of cranial suture biology and disease: Osteoblastic and osteoclastic perspectives.

Authors:  Maureen Beederman; Evan M Farina; Russell R Reid
Journal:  Genes Dis       Date:  2014-09

10.  Recombinant mouse periostin ameliorates coronal sutures fusion in Twist1+/- mice.

Authors:  Shanshan Bai; Dong Li; Liang Xu; Huichuan Duan; Jie Yuan; Min Wei
Journal:  J Transl Med       Date:  2018-04-17       Impact factor: 5.531
  10 in total

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