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Similar articles for PubMed (Select 24266672)

1.

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

Gandomi SK, Parra M, Reeves D, Yap V, Gau CL.

Clin Genet. 2015 Jan;87(1):80-4. doi: 10.1111/cge.12328. Epub 2013 Dec 20.

PMID:
24266672
2.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2.

3.

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.

Zarate YA, Bell C, Schaefer GB.

Cleft Palate Craniofac J. 2015 Mar;52(2):237-9. doi: 10.1597/13-221. Epub 2014 May 7.

PMID:
24805776
4.

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML.

Am J Med Genet A. 2013 Jan;161A(1):108-13. doi: 10.1002/ajmg.a.35696. Epub 2012 Dec 14.

5.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D.

Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.

6.

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J.

Hum Mutat. 2014 Apr;35(4):478-85. doi: 10.1002/humu.22517. Epub 2014 Mar 5.

PMID:
24470203
7.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J.

J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173.

PMID:
23188108
8.

Mandibulofacial Dysostosis with Microcephaly.

Lines M, Hartley T, Boycott K.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2014 Jul 03.

9.

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Smigiel R, Bezniakow N, Jakubiak A, Błoch M, Patkowski D, Obersztyn E, Sasiadek MM.

J Appl Genet. 2015 May;56(2):199-204. doi: 10.1007/s13353-014-0255-4. Epub 2014 Nov 12.

PMID:
25387991
10.

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1042-51. doi: 10.1002/ajmg.b.31071.

PMID:
20333642
11.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.

Clin Genet. 2005 Apr;67(4):341-51.

PMID:
15733271
12.

The use of array-CGH in a cohort of Greek children with developmental delay.

Manolakos E, Vetro A, Kefalas K, Rapti SM, Louizou E, Garas A, Kitsos G, Vasileiadis L, Tsoplou P, Eleftheriades M, Peitsidis P, Orru S, Liehr T, Petersen MB, Thomaidis L.

Mol Cytogenet. 2010 Nov 9;3:22. doi: 10.1186/1755-8166-3-22.

13.

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.

Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA.

Clin Genet. 2004 Jun;65(6):477-82.

PMID:
15151506
14.

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D, Edery P.

Am J Med Genet A. 2014 Jun;164A(6):1571-5. doi: 10.1002/ajmg.a.36484. Epub 2014 Mar 25.

PMID:
24668549
15.

Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR.

Am J Med Genet A. 2008 Aug 1;146A(15):1903-10. doi: 10.1002/ajmg.a.32450.

PMID:
18627067
16.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B.

Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21.

PMID:
22283495
17.

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B.

Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. Epub 2007 Oct 2.

PMID:
18024240
18.

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.

Ogilvie CM, Ahn JW, Mann K, Roberts RG, Flinter F.

Mol Cytogenet. 2009 Feb 24;2:9. doi: 10.1186/1755-8166-2-9.

19.

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.

Williams PG, Wetherbee JJ, Rosenfeld JA, Hersh JH.

Am J Med Genet A. 2011 Jan;155A(1):186-91. doi: 10.1002/ajmg.a.33763.

PMID:
21204230
20.

Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

Roberts JL, Gandomi SK, Parra M, Lu I, Gau CL, Dasouki M, Butler MG.

Case Rep Genet. 2014;2014:264947. doi: 10.1155/2014/264947. Epub 2014 Jun 2.

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