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Items: 1 to 20 of 31

1.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Feb 13. doi: 10.1038/ng.3792. [Epub ahead of print]

PMID:
28191889
2.
3.

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.

Yap P, Liebelt JE, Amor DJ, Moore L, Savarirayan R.

Am J Med Genet A. 2016 May;170A(5):1363-6. doi: 10.1002/ajmg.a.37548. Epub 2016 Jan 11. No abstract available.

PMID:
26754439
4.

Mechanical valve obstruction: Review of diagnostic and treatment strategies.

Salamon J, Munoz-Mendoza J, Liebelt JJ, Taub CC.

World J Cardiol. 2015 Dec 26;7(12):875-81. doi: 10.4330/wjc.v7.i12.875. Review.

5.

Patent foramen ovale: Unanswered questions.

Mojadidi MK, Christia P, Salamon J, Liebelt J, Zaman T, Gevorgyan R, Nezami N, Mojaddedi S, Elgendy IY, Tobis JM, Faillace R.

Eur J Intern Med. 2015 Dec;26(10):743-51. doi: 10.1016/j.ejim.2015.09.017. Epub 2015 Oct 17. Review.

6.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration., Rahman N.

Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13.

7.

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ.

Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679.

8.

Male carrier of haemophilia A.

Williams VK, Liebelt J, Nicholls C, Reardon S, Suppiah R.

Pathology. 2014 Aug;46(5):467-8. doi: 10.1097/PAT.0000000000000131. No abstract available.

PMID:
24992242
9.

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M.

Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Review.

PMID:
24599544
10.

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D; Array Referral Consortium., Friend K, Bain SM, Yu S.

Pathology. 2014 Jan;46(1):41-5. doi: 10.1097/PAT.0000000000000043.

PMID:
24300712
11.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium., Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

12.

Coffin-Siris syndrome is a SWI/SNF complex disorder.

Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N.

Clin Genet. 2014 Jun;85(6):548-54. doi: 10.1111/cge.12225. Epub 2013 Jul 23.

PMID:
23815551
13.

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26.

PMID:
23184456
14.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration., Douglas J, Rahman N.

Oncotarget. 2011 Dec;2(12):1127-33.

15.

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.

Hattersley K, Laurie KJ, Liebelt JE, Gecz J, Durkin SR, Craig JE, Burdon KP.

BMC Med Genet. 2010 Nov 19;11:165. doi: 10.1186/1471-2350-11-165.

16.

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.

Talseth-Palmer BA, Bowden NA, Meldrum C, Nicholl J, Thompson E, Friend K, Liebelt J, Bratkovic D, Haan E, Yu S, Scott RJ.

Cytogenet Genome Res. 2009;124(1):94-101. doi: 10.1159/000200093. Epub 2009 Apr 15.

PMID:
19372674
17.

Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization.

Hull ML, Nemeth D, Hague WM, Wilkinson C, Liebelt J, Lane M, Feil D.

Fertil Steril. 2009 Jun;91(6):2732.e11-4. doi: 10.1016/j.fertnstert.2009.01.104. Epub 2009 Apr 11.

PMID:
19362304
18.

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.

Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gecz J, Liebelt JE, Craig JE.

Am J Med Genet A. 2009 Feb 15;149A(4):633-9. doi: 10.1002/ajmg.a.32726.

PMID:
19291767
19.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E.

Prenat Diagn. 2008 Nov;28(11):993-8. doi: 10.1002/pd.2088.

PMID:
18925618
20.

Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth.

Jasper MJ, Liebelt J, Hussey ND.

Prenat Diagn. 2008 Apr;28(4):292-8. doi: 10.1002/pd.1925.

PMID:
18302307

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