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Items: 1 to 20 of 136

1.

A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.

Farooq M, Fujikawa H, Fujimoto A, Kubo Y, Ito M, Shimomura Y.

Int J Dermatol. 2014 Aug;53(8):1012-5. doi: 10.1111/j.1365-4632.2012.05694.x. Epub 2013 Apr 28. No abstract available.

PMID:
23621477
2.

Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.

Zhou S, Jin D, Song Y.

J Dermatol. 2013 Apr;40(4):277-8. doi: 10.1111/1346-8138.12064. Epub 2013 Jan 7. No abstract available.

PMID:
23293878
3.

Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome.

Flores-Cuevas A, Mutchinick O, Morales-Suárez JJ, González-Huerta LM, Cuevas-Covarrubias SA.

J Investig Med. 2012 Jun;60(5):823-6. doi: 10.2310/JIM.0b013e318250b74c.

PMID:
22481165
4.

A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1.

Fujisawa T, Fukao T, Shimomura Y, Seishima M.

J Dermatol. 2014 Jun;41(6):514-7. doi: 10.1111/1346-8138.12511.

PMID:
24909213
5.

Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I.

Nan X, Dai S, Li CT, Chen XR, Zhao HS, Zhang FS, Song QH.

Gene. 2013 Jul 1;523(1):88-91. doi: 10.1016/j.gene.2013.03.035. Epub 2013 Mar 17.

PMID:
23510776
6.

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

Smaili W, Elalaoui SC, Meier S, Zerkaoui M, Sefiani A, Heinimann K.

BMC Med Genet. 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8.

7.

Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.

Ito T, Shimomura Y, Farooq M, Suzuki N, Sakabe J, Tokura Y.

J Dermatol. 2013 May;40(5):396-8. doi: 10.1111/1346-8138.12111. Epub 2013 Mar 4.

PMID:
23451857
8.

Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.

Tasic V, Gucev Z, Ristoska-Bojkovska N, Janchevska A, Lüdecke HJ.

Ren Fail. 2014 May;36(4):619-22. doi: 10.3109/0886022X.2014.882237. Epub 2014 Feb 6.

PMID:
24502542
9.

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.

Sidler JA, Filges I, Boesch N, Ramelli GP, Röthlisberger B, Huber AR, Tercanli S, Bronz L, Miny P, Heinimann K.

Clin Dysmorphol. 2012 Apr;21(2):87-90. doi: 10.1097/MCD.0b013e32834e9248. No abstract available.

PMID:
22127049
10.

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

Rué M, Lüdecke HJ, Sibon I, Richez C, Taine L, Foubert-Samier A, Arveiler B, Schaeverbeke T, Lacombe D, Tison F, Goizet C.

Eur J Med Genet. 2011 Jul-Aug;54(4):e405-8. doi: 10.1016/j.ejmg.2011.04.001. Epub 2011 Apr 15.

PMID:
21524721
11.

Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.

Sohn YB, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, Kim JY, Park HD, Kim OH, Jin DK.

Ann Clin Lab Sci. 2012 Summer;42(3):307-12.

PMID:
22964620
12.

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.

Crippa M, Bestetti I, Perotti M, Castronovo C, Tabano S, Picinelli C, Grassi G, Larizza L, Pincelli AI, Finelli P.

BMC Med Genet. 2014 May 2;15:52. doi: 10.1186/1471-2350-15-52.

13.

Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?

Marques JS, Maia C, Almeida R, Isidoro L, Dias C.

Pediatr Endocrinol Rev. 2015 Sep;13(1):465-7.

PMID:
26540763
14.

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.

Kobayashi H, Hino M, Shimodahira M, Iwakura T, Ishihara T, Ikekubo K, Ogawa Y, Nakao K, Kurahachi H.

Am J Med Genet. 2002 Jan 1;107(1):26-9.

PMID:
11807863
15.

Making extra teeth: Lessons from a TRPS1 mutation.

Kunotai W, Ananpornruedee P, Lubinsky M, Pruksametanan A, Kantaputra PN.

Am J Med Genet A. 2017 Jan;173(1):99-107. doi: 10.1002/ajmg.a.37967. Epub 2016 Oct 5. Review.

PMID:
27706911
16.

Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features.

Jeon J, Kim JH, Oh CH.

Indian J Dermatol Venereol Leprol. 2014 Jan-Feb;80(1):54-7. doi: 10.4103/0378-6323.125515.

17.

A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.

Shao C, Tian J, Shi DH, Yu CX, Xu C, Wang LC, Gao L, Zhao JJ.

Chin Med J (Engl). 2011 May;124(10):1583-5.

PMID:
21740822
18.

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

Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, Schneider A, Girard M, Edery P, Bretonnes P, Cottalorda J, Lefort G, Jeandel C, Sarda P, Genevieve D.

Eur J Hum Genet. 2014 Jan;22(1):136-9. doi: 10.1038/ejhg.2013.56. Epub 2013 Apr 10.

19.

Trps1 deficiency inhibits the morphogenesis of secondary hair follicles via decreased Noggin expression.

Sun Y, Nakanishi M, Sato F, Oikawa K, Muragaki Y, Zhou G.

Biochem Biophys Res Commun. 2015 Jan 16;456(3):721-6. doi: 10.1016/j.bbrc.2014.12.039. Epub 2014 Dec 13.

PMID:
25514040
20.

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

David D, Marques B, Ferreira C, Araújo C, Vieira L, Soares G, Dias C, Pinto M.

Hum Genet. 2013 Nov;132(11):1287-99. doi: 10.1007/s00439-013-1333-0. Epub 2013 Jul 9.

PMID:
23835950

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