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Items: 1 to 20 of 177

1.

Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.

Hilton MJ, Sawyer JM, Gutiérrez L, Hogart A, Kung TC, Wells DE.

J Hum Genet. 2002;47(3):103-6.

PMID:
11950061
2.

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ.

Nat Genet. 2000 Jan;24(1):71-4.

PMID:
10615131
3.

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
4.

Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients.

Chen LH, Ning CC, Chao SC.

Br J Dermatol. 2010 Aug;163(2):416-9. doi: 10.1111/j.1365-2133.2010.09802.x. Epub 2010 Apr 12.

PMID:
20394624
6.

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
7.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC.

Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PMID:
25792522
8.

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.

9.

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
10.

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE.

Am J Med Genet A. 2017 Jun;173(6):1663-1667. doi: 10.1002/ajmg.a.38204. Epub 2017 Mar 3.

PMID:
28256045
11.

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

Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B.

Am J Hum Genet. 2001 Jan;68(1):81-91. Epub 2000 Dec 7.

12.

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

Kaiser FJ, Brega P, Raff ML, Byers PH, Gallati S, Kay TT, de Almeida S, Horsthemke B, Lüdecke HJ.

Eur J Hum Genet. 2004 Feb;12(2):121-6.

13.

Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?

Karaer K, Yüksel Z.

Genet Couns. 2014;25(1):13-7.

PMID:
24783650
14.

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
15.

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV.

J Biol Chem. 2004 May 21;279(21):22624-34. Epub 2004 Feb 24.

16.

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
17.

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
18.

Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type I.

Karacay S, Saygun I, Tunca Y, Imirzalioglu N, Guvenc G.

J Indian Soc Pedod Prev Dent. 2007 Mar;25(1):43-5.

19.

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

Piccione M, Niceta M, Antona V, Di Fiore A, Cariola F, Gentile M, Corsello G.

Am J Med Genet A. 2009 Aug;149A(8):1837-41. doi: 10.1002/ajmg.a.32952. No abstract available.

PMID:
19610100
20.

Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I.

Rossi A, Devirgiliis V, Panasiti V, Borroni RG, Carlesimo M, Gentile M, Cariola F, Calvieri S.

Br J Dermatol. 2007 Nov;157(5):1021-4. Epub 2007 Sep 13.

PMID:
17854380

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