Similar articles for PMID: 11112658

Year	Number of Results
1986	1
1989	1
1993	1
1994	1
1995	2
1997	2
1998	2
1999	6
2000	5
2001	11
2002	8
2003	8
2004	3
2005	8
2006	3
2007	6
2008	11
2009	4
2010	6
2011	9
2012	4
2013	12
2014	14
2015	12
2016	8
2017	8
2018	7
2019	9
2020	12
2021	8
2022	5
2023	3
2024	2

1

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. Lüdecke HJ, et al. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.

2

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. Maas SM, et al. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522

3

Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.

Malik TH, Von Stechow D, Bronson RT, Shivdasani RA. Malik TH, et al. Mol Cell Biol. 2002 Dec;22(24):8592-600. doi: 10.1128/MCB.22.24.8592-8600.2002. Mol Cell Biol. 2002. PMID: 12446778 Free PMC article.

4

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. Hilton MJ, et al. J Hum Genet. 2002;47(3):103-6. doi: 10.1007/s100380200010. J Hum Genet. 2002. PMID: 11950061

5

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. Smaili W, et al. BMC Med Genet. 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8. BMC Med Genet. 2017. PMID: 28468609 Free PMC article.

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. Flores-Cuevas A, et al. J Investig Med. 2012 Jun;60(5):823-6. doi: 10.2310/JIM.0b013e318250b74c. J Investig Med. 2012. PMID: 22481165

7

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.

Wang C, Xu Y, Qing Y, Yao R, Li N, Wang X, Yu T, Wang J. Wang C, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1417. doi: 10.1002/mgg3.1417. Epub 2020 Aug 10. Mol Genet Genomic Med. 2020. PMID: 33073934 Free PMC article.

8

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. Momeni P, et al. Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717. Nat Genet. 2000. PMID: 10615131

9

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

Su W, Shi X, Lin M, Huang C, Wang L, Song H, Zhuang Y, Zhang H, Li N, Li X. Su W, et al. BMC Med Genet. 2018 Dec 12;19(1):211. doi: 10.1186/s12881-018-0732-4. BMC Med Genet. 2018. PMID: 30541476 Free PMC article.

10

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. Rossi A, et al. Br J Dermatol. 2007 Nov;157(5):1021-4. doi: 10.1111/j.1365-2133.2007.08158.x. Epub 2007 Sep 13. Br J Dermatol. 2007. PMID: 17854380

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