Literature DB >> 3740106

The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III.

N Niikawa, T Kamei.   

Abstract

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Year:  1986        PMID： 3740106     DOI： 10.1002/ajmg.1320240420

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


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  12 in total

1.  Langer-Giedion syndrome: the evolving imaging features in hands and beyond.

Authors:  Wai Kan Tsang; Kwok Wai Michael Yang; Chi Ming Fong
Journal:  Skeletal Radiol       Date:  2013-09-27       Impact factor: 2.199

2.  Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Authors:  H J Lüdecke; J Schaper; P Meinecke; P Momeni; S Gross; H Hirche; M J Abramowicz; B Albrecht; C Apacik; H J Christen; U Claussen; K Devriendt; E Fastnacht; A Forderer; U Friedrich; T H Goodship; M Greiwe; H Hamm; R C Hennekam; G K Hinkel; M Hoeltzenbein; H Kayserili; F Majewski; M Mathieu; R McLeod; A T Midro; U Moog; T Nagai; N Niikawa; K H Orstavik; E Plöchl; C Seitz; J Schmidtke; L Tranebjaerg; M Tsukahara; B Wittwer; B Zabel; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

3.  Identification of the GATA factor TRPS1 as a repressor of the osteocalcin promoter.

Authors:  Denise M Piscopo; Eric B Johansen; Rik Derynck
Journal:  J Biol Chem       Date:  2009-09-15       Impact factor: 5.157

4.  Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report.

Authors:  Sandra Cecilia García-García; Maira Elizabeth Herz-Ruelas; Minerva Gomez-Flores; Norma Elizabeth Vázquez-Herrera; Cosimo Misciali; Antonella Tosti; Sonia Chavez-Alvarez; Jorge Ocampo-Candiani; Alejandra Villarreal-Martinez
Journal:  Skin Appendage Disord       Date:  2020-03-13

5.  Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Authors:  Carole Corsini; Martin Gencik; Marjolaine Willems; Eva Decker; Elodie Sanchez; Jacques Puechberty; Anouck Schneider; Manon Girard; Patrick Edery; Patricia Bretonnes; Jérôme Cottalorda; Geneviève Lefort; Claire Jeandel; Pierre Sarda; David Genevieve
Journal:  Eur J Hum Genet       Date:  2013-04-10       Impact factor: 4.246

6.  A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

Authors:  W Smaili; S Chafai Elalaoui; S Meier; M Zerkaoui; A Sefiani; K Heinimann
Journal:  BMC Med Genet       Date:  2017-05-03       Impact factor: 2.103

7.  Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

Authors:  Weijuan Su; Xiulin Shi; Mingzhu Lin; Caoxin Huang; Liying Wang; Haiqu Song; Yanzhen Zhuang; Haifang Zhang; Nanzhu Li; Xuejun Li
Journal:  BMC Med Genet       Date:  2018-12-12       Impact factor: 2.103

8.  Trichorhinophalangeal syndrome type 1: A case report with literature review.

Authors:  Ramesh Candamourty; Suresh Venkatachalam; B Karthikeyan; M R Ramesh Babu
Journal:  J Nat Sci Biol Med       Date:  2012-07

9.  The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.

Authors:  Yujing Sun; Ting Gui; Aiko Shimokado; Yasuteru Muragaki
Journal:  Cells       Date:  2013-06-27       Impact factor: 6.600

10.  New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Authors:  Milena Crippa; Ilaria Bestetti; Mario Perotti; Chiara Castronovo; Silvia Tabano; Chiara Picinelli; Guido Grassi; Lidia Larizza; Angela Ida Pincelli; Palma Finelli
Journal:  BMC Med Genet       Date:  2014-05-02       Impact factor: 2.103
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