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Items: 1 to 20 of 147

1.

[Trichorhinophalangeal syndrome--clinical presentation and genetics].

Brodwall KM, Júlíusson PB, Bjerknes R, Hovland R, Fiskerstrand T.

Tidsskr Nor Laegeforen. 2011 Aug 9;131(15):1420-3. doi: 10.4045/tidsskr.09.0551. Norwegian.

2.

Trichorhinophalangeal syndrome type III.

Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G.

Dermatology. 1996;193(4):349-52. Review.

PMID:
8993967
3.

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
4.

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.

5.

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.

6.

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
7.

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

Gruber R, Schossig AS, Alnutaifi KA, Martinz V, Blunder S, Zschocke J, Schmuth M, Tinschert S.

J Dtsch Dermatol Ges. 2013 Oct;11(10):1023-5. doi: 10.1111/ddg.12116. Epub 2013 May 13. No abstract available.

PMID:
23668231
8.

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
9.

Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.

Hufeland M, Rahner N, Krauspe R.

J Pediatr Orthop. 2015 Jan;35(1):e1-5. doi: 10.1097/BPO.0000000000000330.

PMID:
25333908
10.

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
11.

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
12.

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
13.

Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.

Macchiaiolo M, Mennini M, Digilio MC, Buonuomo PS, Lepri FR, Gnazzo M, Grandin A, Angioni A, Bartuli A.

Am J Med Genet A. 2014 Mar;164A(3):760-3. doi: 10.1002/ajmg.a.36327. Epub 2013 Dec 19.

PMID:
24357341
14.

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
15.

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
16.

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.

17.

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
18.

Congenital atrichia and hypotrichosis.

Bennàssar A, Ferrando J, Grimalt R.

World J Pediatr. 2011 May;7(2):111-7. doi: 10.1007/s12519-011-0262-z. Epub 2011 May 15. Review.

PMID:
21574026
19.

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
20.

Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.

Narayanan R, Chennareddy S.

BMJ Case Rep. 2015 Jan 27;2015. pii: bcr2014207645. doi: 10.1136/bcr-2014-207645.

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