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Items: 1 to 20 of 64

1.

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

Dastan J, Chijiwa C, Tang F, Martell S, Qiao Y, Rajcan-Separovic E, Lewis ME.

BMC Med Genet. 2016 Nov 10;17(1):78.

2.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Limoge F, Faivre L, Gautier T, Petit JM, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi MC, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L.

Hum Mol Genet. 2015 Dec 1;24(23):6603-13. doi: 10.1093/hmg/ddv366. Epub 2015 Sep 10.

PMID:
26358774
3.

The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study.

Ye Y, Carlsson G, Karlsson-Sjöberg JM, Borregaard N, Modéer TU, Andersson ML, Pütsep KL.

Sci Rep. 2015 Jun 29;5:11685. doi: 10.1038/srep11685.

4.

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD.

PLoS Genet. 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. eCollection 2014 Dec.

5.

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

Madrigal I, Alvarez-Mora MI, Karlberg O, Rodríguez-Revenga L, Elurbe DM, Rabionet R, Mur A, Pie J, Ballesta F, Sauer S, Syvänen AC, Milà M.

J Clin Pathol. 2014 Dec;67(12):1099-103. doi: 10.1136/jclinpath-2014-202537. Epub 2014 Sep 30.

PMID:
25271213
6.

Unique topics and issues in rheumatology and clinical immunology.

Selmi C.

Clin Rev Allergy Immunol. 2014 Aug;47(1):1-5. doi: 10.1007/s12016-014-8441-z.

PMID:
25086643
7.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.

Clin Exp Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2.

PMID:
25060287
8.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C.

Am J Med Genet A. 2014 Feb;164A(2):522-7. doi: 10.1002/ajmg.a.36300. Epub 2013 Dec 5.

PMID:
24311531
9.

Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome.

Cokkinos P, Gkouziouta A, Karavolias G, Kariofillis P, Voudris V.

Hellenic J Cardiol. 2013 Mar-Apr;54(2):143-6.

10.

Periodontal diseases in children and adolescents: a clinician's perspective part 2.

Kumar A, Masamatti SS, Virdi MS.

Dent Update. 2012 Nov;39(9):639-42, 645-6, 649-52.

PMID:
23479853
11.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L.

Eur J Hum Genet. 2013 Jul;21(7):736-42. doi: 10.1038/ejhg.2012.251. Epub 2012 Nov 28.

12.

Congenital neuroblastoma: an autopsy report.

Gupta K, Bansal A.

Fetal Pediatr Pathol. 2012 Oct;31(5):331-5. doi: 10.3109/15513815.2012.659395. Epub 2012 Mar 20.

PMID:
22432426
13.

Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report.

Vakalopoulos I, Kampantais S, Dimopoulos P, Papastavros C, Katsikas V.

BMC Urol. 2012 Jan 10;12:2. doi: 10.1186/1471-2490-12-2.

14.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D.

Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7.

PMID:
21739578
15.

Cohen syndrome diagnosis using whole genome arrays.

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M.

J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4.

PMID:
20921020
16.

Cerebellar hypoplasia and Cohen syndrome: a confirmed association.

Waite A, Somer M, O'Driscoll M, Millen K, Manson FD, Chandler KE.

Am J Med Genet A. 2010 Sep;152A(9):2390-3. doi: 10.1002/ajmg.a.33569. No abstract available.

PMID:
20683995
17.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L.

J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028.

PMID:
20656880
18.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.

Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12.

19.

Ocular findings in Brazilian identical twins with Cohen syndrome: case report.

Rim PH, Figueirêdo ES, Hirata FE, Steiner CE, Marques-de-Faria AP.

Arq Bras Oftalmol. 2009 Nov-Dec;72(6):815-8.

20.

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.

Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin AL, Fryns JP, Vermeesch JR.

Hum Mutat. 2009 Sep;30(9):E845-54. doi: 10.1002/humu.21065.

PMID:
19533689

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