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Results: 1 to 20 of 48

1.

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

Kava M, Chitayat D, Blaser S, Ray PN, Vajsar J.

Pediatr Neurol. 2013 Nov;49(5):374-8. doi: 10.1016/j.pediatrneurol.2013.06.022.

PMID:
24139536
[PubMed - indexed for MEDLINE]
2.

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.

Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L'heureux J, Zucchero TM, Marazita ML, Murray JC.

Am J Med Genet A. 2013 Oct;161(10):2535-44. doi: 10.1002/ajmg.a.36133. Epub 2013 Aug 15.

PMID:
23949966
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S.

Gene. 2013 Oct 15;529(1):186-9. doi: 10.1016/j.gene.2013.07.031. Epub 2013 Aug 6. Review.

PMID:
23928108
[PubMed - indexed for MEDLINE]
4.

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

Gripp KW, Ennis S, Napoli J.

Am J Med Genet A. 2013 May;161A(5):1058-63. doi: 10.1002/ajmg.a.35913.

PMID:
23610050
[PubMed - indexed for MEDLINE]
5.

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

Clements SE, Techanukul T, Lai-Cheong JE, Mee JB, South AP, Pourreyron C, Burrows NP, Mellerio JE, McGrath JA.

Br J Dermatol. 2012 Jul;167(1):134-44. doi: 10.1111/j.1365-2133.2012.10888.x. Epub 2012 May 14.

PMID:
22329826
[PubMed - indexed for MEDLINE]
6.

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.

Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.

PMID:
22236771
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF.

Hum Mutat. 2012 Feb;33(2):364-8. doi: 10.1002/humu.21658. Epub 2011 Dec 27.

PMID:
22095910
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

Serra V, Castori M, Paradisi M, Bui L, Melino G, Terrinoni A.

Am J Med Genet A. 2011 Dec;155A(12):3104-9. doi: 10.1002/ajmg.a.34335. Epub 2011 Nov 8.

PMID:
22069181
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M.

Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7.

PMID:
22065614
[PubMed - indexed for MEDLINE]
10.

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, Böhm E, Nardiello P, Castaldo G, McGrath JA, Willoughby CE.

Ophthalmology. 2012 Jan;119(1):74-83. doi: 10.1016/j.ophtha.2011.06.044. Epub 2011 Sep 28.

PMID:
21959367
[PubMed - indexed for MEDLINE]
11.

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.

Aliferis K, Stoetzel C, Pelletier V, Hellé S, Angioï-Duprez K, Vigneron J, Leheup B, Marion V, Dollfus H.

Ophthalmic Genet. 2011 Nov;32(4):250-5. doi: 10.3109/13816810.2011.592176. Epub 2011 Jul 5.

PMID:
21728810
[PubMed - indexed for MEDLINE]
12.

Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.

Browne G, Cipollone R, Lena AM, Serra V, Zhou H, van Bokhoven H, Dötsch V, Merico D, Mantovani R, Terrinoni A, Knight RA, Candi E, Melino G.

J Cell Sci. 2011 Jul 1;124(Pt 13):2200-7. doi: 10.1242/jcs.079327. Epub 2011 Jun 7.

PMID:
21652629
[PubMed - indexed for MEDLINE]
Free Article
13.

The nosology of Richieri-Costa/Guion-Almeida syndrome(s).

Castori M, Cascone P, Brinelli M, Iannetti G, Grammatico P.

Am J Med Genet A. 2011 Feb;155A(2):398-402. doi: 10.1002/ajmg.a.33805. Epub 2010 Dec 22.

PMID:
21271661
[PubMed - indexed for MEDLINE]
14.

Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.

Shimizu R, Saito R, Hoshino K, Ogawa K, Negishi T, Nishimura J, Mitsui N, Osawa M, Ohashi H.

Congenit Anom (Kyoto). 2010 Sep;50(3):197-9. doi: 10.1111/j.1741-4520.2010.00282.x. Epub 2010 Jun 24.

PMID:
20584037
[PubMed - indexed for MEDLINE]
15.

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA.

Br J Dermatol. 2010 Sep;163(3):624-9. doi: 10.1111/j.1365-2133.2010.09859.x. Review.

PMID:
20491771
[PubMed - indexed for MEDLINE]
16.

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Weaver KN, Rutledge KD, Grant JH, Robin NH.

Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.

PMID:
20101698
[PubMed - indexed for MEDLINE]
17.

DeltaNp63 knockdown mice: A mouse model for AEC syndrome.

Koster MI, Marinari B, Payne AS, Kantaputra PN, Costanzo A, Roop DR.

Am J Med Genet A. 2009 Sep;149A(9):1942-7. doi: 10.1002/ajmg.a.32794.

PMID:
19681108
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Rinne T, Bolat E, Meijer R, Scheffer H, van Bokhoven H.

Am J Med Genet A. 2009 Sep;149A(9):1948-51. doi: 10.1002/ajmg.a.32793.

PMID:
19676060
[PubMed - indexed for MEDLINE]
19.

Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.

Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA.

Am J Med Genet A. 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791.

PMID:
19676059
[PubMed - indexed for MEDLINE]
20.

Clinical lessons learned from the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.

Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1894-9. doi: 10.1002/ajmg.a.32788.

PMID:
19676057
[PubMed - indexed for MEDLINE]

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