Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 119

1.

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
2.

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
3.

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
4.

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.

5.

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
6.

Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.

de Barros GM, Kakehasi AM.

Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):86-9. doi: 10.1016/j.rbre.2014.08.017. Epub 2015 Mar 9. English, Portuguese.

7.

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
8.

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.

9.

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
10.

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
11.

Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.

Napierala D, Sam K, Morello R, Zheng Q, Munivez E, Shivdasani RA, Lee B.

Hum Mol Genet. 2008 Jul 15;17(14):2244-54. doi: 10.1093/hmg/ddn125. Epub 2008 Apr 17.

12.

Tricho-rhino-phalangeal syndrome type I in a Belgian family.

Verbruggen LA, Van Laere C, Lamoureux J, Van Tiggelen R.

Clin Rheumatol. 1987 Jun;6(2):185-91.

PMID:
3621840
13.

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.

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
16.

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.

17.

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
18.

Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).

Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ.

Am J Med Genet A. 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615.

PMID:
19012352
19.

Perthes-like disease and the tricho-rhino-phalangeal syndromes: the first black patient.

Stearns ZR, Lacassie Y, MacEwen GD.

Orthopedics. 1990 Apr;13(4):468-73.

PMID:
2333260
20.

Tricho-rhino-phalangeal type I syndrome and mental retardation: identification of a novel mutation in the TRPS1 gene.

Gonzalez-Huerta LM, Cuevas-Covarrubias SA, Messina-Baas OM.

J Dermatol Sci. 2007 Oct;48(1):61-3. Epub 2007 Aug 3. No abstract available.

PMID:
17689056

Supplemental Content

Support Center