Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 137

1.

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.

Sahli M, Zrhidri A, Elaloui SC, Smaili W, Lyahyai J, Oudghiri FZ, Sefiani A.

J Med Case Rep. 2019 Aug 23;13(1):266. doi: 10.1186/s13256-019-2203-8.

2.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A.

Nat Commun. 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w.

3.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F.

Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005.

4.

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

Adadi N, Sahli M, Egéa G, Ratbi I, Taoudi M, Zniber L, Jdioui W, El Mouatassim S, Sefiani A.

J Med Case Rep. 2018 Oct 29;12(1):322. doi: 10.1186/s13256-018-1855-0.

5.

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

Cherkaoui Jaouad I, Zrhidri A, Jdioui W, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.

BMC Med Genet. 2018 Jul 18;19(1):118. doi: 10.1186/s12881-018-0625-6.

6.

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.

Adadi N, Radi FZ, Lahrouchi N, Hara L, Ratbi I, Elalaoui SC, Alders M, Zarzur J, Bezzina C, Sefiani A.

Anatol J Cardiol. 2018 Jul;20(1):65-68. doi: 10.14744/AnatolJCardiol.2018.69639. No abstract available.

7.

Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

Debiec H, Dossier C, Letouzé E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F, Sampson MG, Deschênes G, Ronco P.

J Am Soc Nephrol. 2018 Jul;29(7):2000-2013. doi: 10.1681/ASN.2017111185. Epub 2018 Jun 14.

8.

Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report.

Berrani H, Meskini T, Zerkaoui M, Merhni H, Ettair S, Sefiani A, Mouane N.

BMC Pediatr. 2018 Jun 4;18(1):184. doi: 10.1186/s12887-018-1161-4.

9.

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Apr 17;18(1):138. doi: 10.1186/s12887-018-1114-y.

10.

A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.

Zerkaoui M, Laarabi FZ, Ajhoun Y, Chkirate B, Sefiani A.

J Med Case Rep. 2018 Mar 1;12(1):53. doi: 10.1186/s13256-017-1552-4.

11.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Ouled Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Feb 27;18(1):90. doi: 10.1186/s12887-018-1063-5. Erratum in: BMC Pediatr. 2018 Apr 17;18(1):138.

12.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F.

Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18.

13.

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Amasdl S, Smaili W, Natiq A, Hassani A, Sbiti A, Agadr A, Sanlaville D, Sefiani A.

Cytogenet Genome Res. 2017;153(2):66-72. doi: 10.1159/000485071. Epub 2017 Dec 16.

PMID:
29248929
14.

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.

Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Erratum in: Hum Mutat. 2019 Jan;40(1):127.

PMID:
29243349
15.

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

Wallis M, Baumer A, Smaili W, Jaouad IC, Sefiani A, Jacobson E, Bowyer L, Mowat D, Rauch A.

Eur J Med Genet. 2018 Apr;61(4):189-196. doi: 10.1016/j.ejmg.2017.12.002. Epub 2017 Dec 7.

PMID:
29225145
16.

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ratbi I, Bocciardi R, Regragui A, Ravazzolo R, Sefiani A.

Clin Rheumatol. 2018 Mar;37(3):857. doi: 10.1007/s10067-017-3909-x.

PMID:
29134511
17.

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.

Pediatr Rheumatol Online J. 2017 Sep 26;15(1):72. doi: 10.1186/s12969-017-0200-2.

18.

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Zerkaoui M, Demain LAM, Cherkaoui Jaouad I, Ratbi I, Amjoud K, Urquhart JE, O'Sullivan J, Newman WG, Sefiani A.

Clin Dysmorphol. 2017 Oct;26(4):200-204. doi: 10.1097/MCD.0000000000000198.

PMID:
28832386
19.

[NOD2 gene mutation in Moroccan patients with Crohn's disease: prevalence, genotypic study and correlation of NOD2 gene mutation with the phenotype of Crohn's disease].

Tamzaourte M, Errabih I, Krami H, Maha F, Maria L, Benzzoubeir N, Ouazzani L, Sefiani A, Ouazzani H.

Pan Afr Med J. 2017 Jun 14;27:116. doi: 10.11604/pamj.2017.27.116.9187. eCollection 2017. French.

20.

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.

Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.

Gene. 2017 Sep 10;628:190-193. doi: 10.1016/j.gene.2017.07.011. Epub 2017 Jul 8. Review.

PMID:
28694206
21.

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

Doubaj Y, Smaili W, Laarabi FZ, Sefiani A.

J Med Case Rep. 2017 Jun 15;11(1):158. doi: 10.1186/s13256-017-1311-6.

22.

High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.

Laarabi FZ, Ratbi I, Elalaoui SC, Mezzouar L, Doubaj Y, Bouguenouch L, Ouldim K, Benjaafar N, Sefiani A.

BMC Res Notes. 2017 Jun 2;10(1):188. doi: 10.1186/s13104-017-2511-2.

23.

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

Smaili W, Elalaoui SC, Meier S, Zerkaoui M, Sefiani A, Heinimann K.

BMC Med Genet. 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8.

24.

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.

Adadi N, Lahrouchi N, Bouhouch R, Fellat I, Amri R, Alders M, Sefiani A, Bezzina C, Ratbi I.

J Med Case Rep. 2017 Apr 2;11(1):88. doi: 10.1186/s13256-017-1243-1.

25.

Associations between clinical characteristics and angiotensin-converting enzyme gene insertion/deletion polymorphism in Moroccan population with Type-2 diabetic nephropathy.

Mansouri M, Zniber A, Boualla L, El Badaoui G, Benkacem M, Rifai K, Chraibi A, Benamar L, Sefiani A, Bayahia R.

Saudi J Kidney Dis Transpl. 2017 Mar-Apr;28(2):261-267. doi: 10.4103/1319-2442.202792.

26.

CALR gene mutational profile in myeloproliferative neoplasms with non-mutated JAK2 in Moroccan patients: A case series and germline in-frame deletion.

Smaili W, Doubaj Y, Laarabi FZ, Lyahyai J, Kerbout M, Mikdame M, Sefiani A.

Curr Res Transl Med. 2017 Jan - Mar;65(1):15-19. doi: 10.1016/j.retram.2016.08.002. Epub 2016 Nov 3.

PMID:
28340692
27.

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

Lahrouchi N, Lodder EM, Mansouri M, Tadros R, Zniber L, Adadi N, Clur SB, van Spaendonck-Zwarts KY, Postma AV, Sefiani A, Ratbi I, Bezzina CR.

Eur J Hum Genet. 2017 Jun;25(6):783-787. doi: 10.1038/ejhg.2017.22. Epub 2017 Mar 15.

28.

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.

Cherkaoui Jaouad I, Lyahyai J, Guaoua S, El Alloussi M, Zrhidri A, Doubaj Y, Boulanouar A, Sefiani A.

Eur J Med Genet. 2017 May;60(5):239-244. doi: 10.1016/j.ejmg.2017.02.004. Epub 2017 Feb 27.

PMID:
28246031
29.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.

Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.

PMID:
28067911
30.

Genetics and genomic medicine in Morocco: the present hope can make the future bright.

Belhassan K, Ouldim K, Sefiani AA.

Mol Genet Genomic Med. 2016 Nov 10;4(6):588-598. eCollection 2016 Nov.

31.

Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion.

Natiq A, Lysy PA, Gillemans N, Schaap R, Sefiani A, Amzazi S, Chafai El-Alaoui S, Cantú I, Banjanin B, van Lom K, Harteveld CL, Philipsen S.

Am J Hematol. 2017 Jan;92(1):E2-E3. doi: 10.1002/ajh.24574. Epub 2016 Nov 12. No abstract available.

32.

Non lethal Raine syndrome and differential diagnosis.

Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O'Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A.

Eur J Med Genet. 2016 Nov;59(11):577-583. doi: 10.1016/j.ejmg.2016.09.018. Epub 2016 Sep 22.

PMID:
27667191
33.

Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.

Baziz M, Hamouli-Said Z, Ratbi I, Habel M, Guaoua S, Sbiti A, Sefiani A.

Iran J Public Health. 2016 Jun;45(6):739-47.

34.

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

Ratbi I, Jaouad IC, Elorch H, Al-Sheqaih N, Elalloussi M, Lyahyai J, Berraho A, Newman WG, Sefiani A.

Eur J Med Genet. 2016 Oct;59(10):507-11. doi: 10.1016/j.ejmg.2016.09.004. Epub 2016 Sep 12.

PMID:
27633571
35.

NAT2 Genotypes in Moroccan Patients with Hepatotoxicity Due to Antituberculosis Drugs.

Guaoua S, Ratbi I, El Bouazzi O, Hammi S, Tebaa A, Bourkadi JE, Bencheikh RS, Sefiani A.

Genet Test Mol Biomarkers. 2016 Nov;20(11):680-684. Epub 2016 Aug 19.

PMID:
27541622
36.

First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene.

Jouali F, Laarabi FZ, Marchoudi N, Ratbi I, Elalaoui SC, Rhaissi H, Fekkak J, Sefiani A.

Oncol Lett. 2016 Aug;12(2):1192-1196. Epub 2016 Jun 16.

37.

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A.

Am J Med Genet A. 2016 Sep;170(9):2462-5. doi: 10.1002/ajmg.a.37839. Epub 2016 Jul 6.

PMID:
27380734
38.

Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.

Amasdl S, Natiq A, Elalaoui SC, Sbiti A, Liehr T, Sefiani A.

J Med Case Rep. 2016 May 13;10(1):122. doi: 10.1186/s13256-016-0830-x.

39.

Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.

Boualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A.

Curr Res Transl Med. 2016 Jan-Mar;64(1):5-8. doi: 10.1016/j.retram.2016.01.005. Epub 2016 Feb 11.

PMID:
27140593
40.

20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature.

Amasdl S, Natiq A, Sbiti A, Zerkaoui M, Lyahyai J, Amzazi S, Liehr T, Sefiani A.

BMC Res Notes. 2016 Jan 2;9:5. doi: 10.1186/s13104-015-1828-y. Review.

41.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

Twigg SR, Ousager LB, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, Bak GS, Hove H, Hansen LK, Fagerberg CR, Tajir M, Wilkie AO.

Clin Genet. 2016 Sep;90(3):270-5. doi: 10.1111/cge.12721. Epub 2016 Feb 3.

42.

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.

Zerkaoui M, Ratbi I, Castellotti B, Gellera C, Lyahyai J, Kriouile Y, Sefiani A.

BMC Pediatr. 2015 Nov 13;15:182. doi: 10.1186/s12887-015-0490-9.

43.

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L.

J Med Case Rep. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3.

44.

A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.

Laouina S, El Alaoui SC, Amezian R, Al Bouzidi A, Sefiani A, El Alloussi M.

J Med Case Rep. 2015 Oct 28;9:245. doi: 10.1186/s13256-015-0724-3.

45.

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S.

Am J Med Genet A. 2016 Feb;170A(2):460-465. doi: 10.1002/ajmg.a.37426. Epub 2015 Oct 13.

PMID:
26463668
46.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G.

Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17.

47.

AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.

Boualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A.

Genet Test Mol Biomarkers. 2015 Nov;19(11):623-8. doi: 10.1089/gtmb.2015.0136. Epub 2015 Sep 18.

PMID:
26383609
48.

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Cherkaoui Jaouad I, Laarabi FZ, Chafai Elalaoui S, Lyonnet S, Henrion-Caude A, Sefiani A.

Mol Syndromol. 2015 Jul;6(2):77-82. doi: 10.1159/000430970. Epub 2015 Jun 11.

49.

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

Doubaj Y, Pingault V, Elalaoui SC, Ratbi I, Azouz M, Zerhouni H, Ettayebi F, Sefiani A.

Mol Syndromol. 2015 Feb;6(1):44-9. doi: 10.1159/000371590. Epub 2015 Jan 28.

50.

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A.

BMC Oral Health. 2015 Jan 30;15:14. doi: 10.1186/1472-6831-15-14.

Supplemental Content

Loading ...
Support Center