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Items: 34

1.

Primary Immunodeficiencies: Epidemiology in the Maghreb.

Bousfiha AA, Errami A, Jeddane L, Mellouli F, Reda SM, Adeli M, Al-Herz W, Zyoud R, Erwa N, Suleiman Y, Boukari R, Dakkoune M, Yagoubi A, Al-Mousa H, Arnaout R, Alhamadi S, Bejaoui M, Barbouche MR, AlSaoud B, Al-Dhekri H.

Tunis Med. 2018 Oct-Nov;96(10-11):672-677.

2.

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.

van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS.

Clin Genet. 2015 Feb;87(2):141-7. doi: 10.1111/cge.12355. Epub 2014 Mar 6.

PMID:
24597975
3.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
4.

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

Vijzelaar R, Waller S, Errami A, Donaldson A, Lourenco T, Rodrigues M, McConnell V, Fincham G, Snead M, Richards A.

BMC Med Genet. 2013 Apr 26;14:48. doi: 10.1186/1471-2350-14-48.

5.

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.

Sørensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, Steensberg J, Hjortdal V, Soller M, Behjati M, Werge T, Kirchoff M, Schouten J, Tommerup N, Andersen PS, Larsen LA.

Am J Med Genet A. 2012 Apr;158A(4):720-5. doi: 10.1002/ajmg.a.35214. Epub 2012 Mar 1.

PMID:
22383218
6.

Megalencephalic leukoencephalopathy with cysts without MLC1 defect.

van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine MR, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC.

Ann Neurol. 2010 Jun;67(6):834-7. doi: 10.1002/ana.21980.

PMID:
20517947
7.

Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.

Scheper GC, van Berkel CG, Leisle L, de Groot KE, Errami A, Jentsch TJ, Van der Knaap MS.

Genet Test Mol Biomarkers. 2010 Apr;14(2):255-7. doi: 10.1089/gtmb.2009.0148.

PMID:
20187760
8.

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS.

Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Review.

PMID:
20052767
9.

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

Tsuji M, Aida N, Obata T, Tomiyasu M, Furuya N, Kurosawa K, Errami A, Gibson KM, Salomons GS, Jakobs C, Osaka H.

J Inherit Metab Dis. 2010 Feb;33(1):85-90. doi: 10.1007/s10545-009-9022-9. Epub 2010 Jan 6.

10.

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS.

Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186.

PMID:
20020533
11.

Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil.

Cossio SL, Koehler-Santos P, Pessini SA, Mónego H, Edelweiss MI, Meurer L, Errami A, Coffa J, Bock H, Saraiva-Pereira ML, Ashton-Prolla P, Prolla JC.

Fam Cancer. 2010 Jun;9(2):131-9. doi: 10.1007/s10689-009-9297-x.

PMID:
19821155
12.

Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer.

Ameziane N, van den Ouweland AM, Adank MA, Vijzelaar RN, Errami A, Dorsman JC, Joenje H, Meijers-Heijboer H, Waisfisz Q.

Breast Cancer Res Treat. 2009 Dec;118(3):651-3. doi: 10.1007/s10549-009-0428-8. Epub 2009 Jun 6. No abstract available.

PMID:
19504183
13.

MLPA diagnostics of complex microbial communities: relative quantification of bacterial species in oral biofilms.

Terefework Z, Pham CL, Prosperi AC, Entius MM, Errami A, van Spanning RJ, Zaura E, Ten Cate JM, Crielaard W.

J Microbiol Methods. 2008 Dec;75(3):558-65. doi: 10.1016/j.mimet.2008.08.012. Epub 2008 Sep 13.

PMID:
18824042
14.

Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.

Hess CJ, Ameziane N, Schuurhuis GJ, Errami A, Denkers F, Kaspers GJ, Cloos J, Joenje H, Reinhardt D, Ossenkoppele GJ, Zwaan CM, Waisfisz Q.

Cell Oncol. 2008;30(4):299-306.

15.

Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia.

Hess CJ, Errami A, Berkhof J, Denkers F, Ossenkoppele GJ, Nygren AO, Schuurhuis GJ, Waisfisz Q.

Leuk Lymphoma. 2008 Jun;49(6):1132-41. doi: 10.1080/10428190802035990.

PMID:
18569637
16.

Detailed analysis of 22q11.2 with a high density MLPA probe set.

Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS.

Hum Mutat. 2008 Mar;29(3):433-40.

17.

Sequential gene promoter methylation during HPV-induced cervical carcinogenesis.

Henken FE, Wilting SM, Overmeer RM, van Rietschoten JG, Nygren AO, Errami A, Schouten JP, Meijer CJ, Snijders PJ, Steenbergen RD.

Br J Cancer. 2007 Nov 19;97(10):1457-64. Epub 2007 Oct 30.

18.

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H.

Hum Mutat. 2008 Jan;29(1):159-66.

PMID:
17924555
19.

MS-MLPA: an attractive alternative laboratory assay for robust, reliable, and semiquantitative detection of MGMT promoter hypermethylation in gliomas.

Jeuken JW, Cornelissen SJ, Vriezen M, Dekkers MM, Errami A, Sijben A, Boots-Sprenger SH, Wesseling P.

Lab Invest. 2007 Oct;87(10):1055-65. Epub 2007 Aug 13.

20.

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP.

Nat Genet. 2007 Feb;39(2):159-61. Epub 2006 Dec 31.

PMID:
17200672
21.

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM.

J Inherit Metab Dis. 2007 Feb;30(1):23-8. Epub 2006 Dec 20.

PMID:
17186413
22.

Cytogenetic instability in ovarian epithelial cells from women at risk of ovarian cancer.

Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC Jr.

Cancer Res. 2006 Sep 15;66(18):9017-25.

23.

Epigenetic events of disease progression in head and neck squamous cell carcinoma.

Worsham MJ, Chen KM, Meduri V, Nygren AO, Errami A, Schouten JP, Benninger MS.

Arch Otolaryngol Head Neck Surg. 2006 Jun;132(6):668-77.

PMID:
16785414
24.

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.

Nygren AO, Ameziane N, Duarte HM, Vijzelaar RN, Waisfisz Q, Hess CJ, Schouten JP, Errami A.

Nucleic Acids Res. 2005 Aug 16;33(14):e128.

25.

Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.

Meuller J, Kanter-Smoler G, Nygren AO, Errami A, Grönberg H, Holmberg E, Björk J, Wahlström J, Nordling M.

Genet Test. 2004 Fall;8(3):248-56.

PMID:
15727247
26.

Screening for large mutations of the NF2 gene.

Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V.

Genes Chromosomes Cancer. 2005 Apr;42(4):384-91.

PMID:
15645494
27.

A single amino acid substitution in DNA-PKcs explains the novel phenotype of the CHO mutant, XR-C2.

Woods T, Wang W, Convery E, Errami A, Zdzienicka MZ, Meek K.

Nucleic Acids Res. 2002 Dec 1;30(23):5120-8.

28.

Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions.

Kraakman-van der Zwet M, Overkamp WJ, van Lange RE, Essers J, van Duijn-Goedhart A, Wiggers I, Swaminathan S, van Buul PP, Errami A, Tan RT, Jaspers NG, Sharan SK, Kanaar R, Zdzienicka MZ.

Mol Cell Biol. 2002 Jan;22(2):669-79.

29.

A new X-ray sensitive CHO cell mutant of ionizing radiation group 7,XR-C2, that is defective in DSB repair but has only a mild defect in V(D)J recombination.

Errami A, Overkamp WJ, He DM, Friedl AA, Gell DA, Eckardt-Schupp F, Jackson SP, Hendrickson EA, Lohman PH, Zdzienicka MZ.

Mutat Res. 2000 Sep 15;461(1):59-69.

PMID:
10980412
30.

Molecular and biochemical characterization of new X-ray-sensitive hamster cell mutants defective in Ku80.

Errami A, Finnie NJ, Morolli B, Jackson SP, Lohman PH, Zdzienicka MZ.

Nucleic Acids Res. 1998 Oct 1;26(19):4332-8.

31.

XR-C1, a new CHO cell mutant which is defective in DNA-PKcs, is impaired in both V(D)J coding and signal joint formation.

Errami A, He DM, Friedl AA, Overkamp WJ, Morolli B, Hendrickson EA, Eckardt-Schupp F, Oshimura M, Lohman PH, Jackson SP, Zdzienicka MZ.

Nucleic Acids Res. 1998 Jul 1;26(13):3146-53.

33.

Ku86 defines the genetic defect and restores X-ray resistance and V(D)J recombination to complementation group 5 hamster cell mutants.

Errami A, Smider V, Rathmell WK, He DM, Hendrickson EA, Zdzienicka MZ, Chu G.

Mol Cell Biol. 1996 Apr;16(4):1519-26.

34.

Two novel molecular defects in the LCAT gene are associated with fish eye disease.

Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH.

Arterioscler Thromb Vasc Biol. 1996 Feb;16(2):294-303. Review.

PMID:
8620346

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