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Results: 1 to 20 of 43

1.

Surgical treatment for kyphoscoliosis in Cohen syndrome.

Imagama S, Tsuji T, Ohara T, Katayama Y, Goto M, Ishiguro N, Kawakami N.

Nagoya J Med Sci. 2013 Aug;75(3-4):279-86. Review.

PMID:
24640185
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
23557616
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
23188044
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
22233653
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.

Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC.

J Biol Chem. 2011 Oct 28;286(43):37665-75. doi: 10.1074/jbc.M111.267971. Epub 2011 Aug 24.

PMID:
21865173
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

A canine model of Cohen syndrome: Trapped Neutrophil Syndrome.

Shearman JR, Wilton AN.

BMC Genomics. 2011 May 23;12:258. doi: 10.1186/1471-2164-12-258.

PMID:
21605373
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Glucose-6-phosphatase deficiency.

Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P.

Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Review.

PMID:
21599942
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical variability of genetic isolates of Cohen syndrome.

Douzgou S, Petersen MB.

Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7. Review.

PMID:
21418059
[PubMed - indexed for MEDLINE]
10.

Ophthalmic findings in the Greek isolate of Cohen syndrome.

Douzgou S, Samples JR, Georgoudi N, Petersen MB.

Am J Med Genet A. 2011 Mar;155A(3):534-9. doi: 10.1002/ajmg.a.33797. Epub 2011 Feb 22.

PMID:
21344628
[PubMed - indexed for MEDLINE]
11.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.

El Chehadeh-Djebbar S, Faivre L, Moncla A, Aral B, Missirian C, Popovici C, Rump P, Van Essen A, Frances AM, Gigot N, Cusin V, Masurel-Paulet A, Gueneau L, Payet M, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Balikova I, Teyssier JR, Mugneret F, Thauvin-Robinet C, Callier P.

J Med Genet. 2011 Nov;48(11):e1. doi: 10.1136/jmg.2011.088948. Epub 2011 Feb 17. No abstract available.

PMID:
21330571
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
20461111
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
20098905
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ.

Eur J Hum Genet. 2009 Aug;17(8):1076-9. doi: 10.1038/ejhg.2008.273. Epub 2009 Feb 4.

PMID:
19190672
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D.

Hum Mutat. 2009 Feb;30(2):E404-20. doi: 10.1002/humu.20886.

PMID:
19006247
[PubMed - indexed for MEDLINE]
20.

FNA diagnosis of Hutchison Pepper syndrome and metastatic neuroblastoma: a report of two cases.

Alam K, Siddiqui F, Haider N, Maheshwari V, Jain A, Khan A.

Diagn Cytopathol. 2008 Nov;36(11):843-5. doi: 10.1002/dc.20935. No abstract available.

PMID:
18831014
[PubMed - indexed for MEDLINE]

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