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Items: 1 to 20 of 53

1.

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Sergouniotis PI, Urquhart JE, Williams SG, Bhaskar SS, Black GC, Lovell SC, Whitby DJ, Newman WG, Clayton-Smith J.

J Hum Genet. 2015 Apr;60(4):199-202. doi: 10.1038/jhg.2014.122. Epub 2015 Jan 15.

PMID:
25589041
2.

A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes.

De Groote P, Tran HT, Fransen M, Tanghe G, Urwyler C, De Craene B, Leurs K, Gilbert B, Van Imschoot G, De Rycke R, Guérin CJ, Holland P, Berx G, Vandenabeele P, Lippens S, Vleminckx K, Declercq W.

Cell Death Differ. 2015 Jun;22(6):1012-24. doi: 10.1038/cdd.2014.191. Epub 2014 Nov 28.

PMID:
25430793
3.

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

Preiksaitiene E, Krasovskaja N, Utkus A, Kasnauskiene J, Meškienė R, Paulauskiene I, Valevičienė NR, Kučinskas V.

Clin Dysmorphol. 2015 Jan;24(1):7-12. doi: 10.1097/MCD.0000000000000059.

PMID:
25304119
4.

Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.

Ababneh FK, Al-Swaid A, Elhag A, Youssef T, Alsaif S.

Am J Med Genet A. 2014 Jun;164A(6):1525-9. doi: 10.1002/ajmg.a.36465. Epub 2014 Apr 9.

PMID:
24719364
5.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D.

Am J Med Genet A. 2014 Mar;164A(3):648-54. doi: 10.1002/ajmg.a.36323. Epub 2013 Dec 19.

PMID:
24357154
6.

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
7.

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

8.

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
9.

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
10.

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
11.

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.

12.

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.

13.

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.

14.

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
15.

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
16.

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
17.

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.

18.

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
19.

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
20.

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
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