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Items: 28

1.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF.

PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug.

2.

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, Chioza BA, Blakely RD, Chilton JK, De Bleecker J, Baets J, Baple EL, Walk D, Crosby AH.

Neurol Genet. 2018 Mar 23;4(2):e222. doi: 10.1212/NXG.0000000000000222. eCollection 2018 Apr.

3.

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA.

BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x.

4.

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH.

Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249.

PMID:
29088354
5.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL.

Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014.

6.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA.

PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan.

7.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH.

Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318.

8.

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.

Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, Dehghani M.

Iran J Public Health. 2016 Oct;45(10):1359-1366.

9.

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

Everett KV, Ataliotis P, Chioza BA, Shaw-Smith C, Chung EMK.

Pediatr Res. 2017 Apr;81(4):632-638. doi: 10.1038/pr.2016.244. Epub 2016 Nov 17.

PMID:
27855150
10.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH.

BMC Med Genet. 2016 Nov 16;17(1):82.

11.

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH.

Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30.

PMID:
27492651
12.

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM.

Eur J Hum Genet. 2016 Nov;24(11):1627-1629. doi: 10.1038/ejhg.2016.58. Epub 2016 Jun 29.

13.

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, Proukakis C, Kulkarni A, Crosby AH.

BMC Med Genet. 2015 Nov 10;16:104. doi: 10.1186/s12881-015-0251-5.

14.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA.

Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11.

15.

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.

Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH.

Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25.

PMID:
26005865
16.

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH.

Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1.

17.

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH.

J Clin Invest. 2014 Jul;124(7):3137-46. doi: 10.1172/JCI74593. Epub 2014 Jun 9.

18.

Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.

Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S.

Am J Med Genet A. 2014 Apr;164A(4):1003-9. doi: 10.1002/ajmg.a.36375. Epub 2014 Jan 23.

PMID:
24458550
19.

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.

Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH.

Am J Hum Genet. 2014 Jan 2;94(1):87-94. doi: 10.1016/j.ajhg.2013.10.001. Epub 2013 Nov 14.

20.

SLITRK6 mutations cause myopia and deafness in humans and mice.

Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH.

J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1.

21.

Mutation of HERC2 causes developmental delay with Angelman-like features.

Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH.

J Med Genet. 2013 Feb;50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14.

PMID:
23243086
22.

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN.

Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.

23.

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

Chioza BA, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley JM, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis ML, Guerrini R, Kjeldsen MJ, Nabbout R, Nashef L, Sander T, Sirén A, Wirrell E, McKeigue P, Robinson R, Gardiner RM, Everett KV.

Epilepsy Res. 2009 Dec;87(2-3):247-55. doi: 10.1016/j.eplepsyres.2009.09.010. Epub 2009 Oct 17.

24.

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.

Everett KV, Chioza BA, Georgoula C, Reece A, Gardiner RM, Chung EM.

Hum Genet. 2009 Dec;126(6):819-31. doi: 10.1007/s00439-009-0735-5.

PMID:
19701773
25.

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Everett KV, Capon F, Georgoula C, Chioza BA, Reece A, Jaswon M, Pierro A, Puri P, Gardiner RM, Chung EM.

Eur J Hum Genet. 2008 Sep;16(9):1151-4. doi: 10.1038/ejhg.2008.86. Epub 2008 May 14.

26.

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, Puri P, Mitchison HM, Chung EM, Gardiner RM.

Am J Hum Genet. 2008 Mar;82(3):756-62. doi: 10.1016/j.ajhg.2007.12.023. Epub 2008 Feb 28.

27.

Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis.

Chioza BA, Ujfalusy A, Csiszar K, Leigh PN, Powell JF, Radunović A.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2001 Jun;2(2):93-7.

PMID:
11675877
28.

Mutations in all five exons of SOD-1 may cause ALS.

Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, Powell JF, Leigh PN.

Ann Neurol. 1998 Mar;43(3):390-4.

PMID:
9506558

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