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Items: 37

1.

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.

2.

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.

PMID:
29903748
3.

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.

4.

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.

5.

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
6.

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.

7.

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.

8.

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
9.

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
10.

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.

11.

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
12.

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.

13.

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.

14.

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
15.

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.

16.

Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.

Guaoua S, Ratbi I, Laarabi FZ, Elalaoui SC, Jaouad IC, Barkat A, Sefiani A.

BMC Genet. 2014 Dec 29;15:156. doi: 10.1186/s12863-014-0156-x.

17.

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L.

Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15.

18.

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE.

Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18.

PMID:
25044680
19.

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

Natiq A, Elalaoui SC, Miesch S, Bonnet C, Jonveaux P, Amzazi S, Sefiani A.

Mol Cytogenet. 2014 Jun 5;7:40. doi: 10.1186/1755-8166-7-40. eCollection 2014.

20.

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies.

Natiq A, Elalaoui SC, Liehr T, Amzazi S, Sefiani A.

Indian J Hum Genet. 2014 Jan;20(1):89-91. doi: 10.4103/0971-6866.132767.

21.

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C.

Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26.

PMID:
24635570
22.

Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome.

Elalaoui SC, Garin I, Sefiani A, Perez de Nanclares G.

Mol Syndromol. 2014 Jan;5(1):41-6. doi: 10.1159/000356689. Epub 2013 Nov 30.

23.

Low level of consanguinity in moroccan families at high risk of breast cancer.

Elalaoui SC, Jaouad IC, Laarabi FZ, Elgueddari Bel K.

Asian Pac J Cancer Prev. 2013;14(2):723-6.

24.

Germline mosaicism in Rubinstein-Taybi syndrome.

Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A.

Gene. 2013 Apr 15;518(2):476-8. doi: 10.1016/j.gene.2012.12.105. Epub 2013 Jan 23.

PMID:
23352794
25.

[Costello syndrome: report of a case].

Tajir M, Fergelot P, Lancelot G, Arveiler B, Elalaoui SC, Lacombe D, Sefiani A.

Pan Afr Med J. 2012;12:64. Epub 2012 Jul 4. French. No abstract available.

26.

An inherited LMNA gene mutation in atypical Progeria syndrome.

Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A.

Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18.

PMID:
22991222
27.

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M.

Eur J Med Genet. 2012 Oct;55(10):535-40. doi: 10.1016/j.ejmg.2012.06.006. Epub 2012 Jul 20.

PMID:
22766002
28.

Moroccan consanguineous family with Becker myotonia and review.

Ratbi I, Elalaoui SC, Escudero A, Kriouile Y, Molano J, Sefiani A.

Ann Indian Acad Neurol. 2011 Oct;14(4):307-9. doi: 10.4103/0972-2327.91963.

29.

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A.

J Dermatol. 2012 Apr;39(4):382-4. doi: 10.1111/j.1346-8138.2011.01453.x. Epub 2011 Dec 29.

PMID:
22211393
30.

A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.

Elalaoui SC, Mariam T, Ilham R, Yassamine D, Abdelaziz S.

Indian J Hum Genet. 2011 May;17(2):97-9. doi: 10.4103/0971-6866.86197.

31.

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Ratbi I, Elalaoui SC, Moizard MP, Raynaud M, Sefiani A.

Turk J Pediatr. 2010 Sep-Oct;52(5):525-8.

PMID:
21434539
32.

[Three cases of Hutchinson-Gilford progeria syndrome].

Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A.

Arch Pediatr. 2011 Feb;18(2):156-9. doi: 10.1016/j.arcped.2010.11.014. Epub 2011 Jan 19. French.

PMID:
21251803
33.

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

Elalaoui SC, Kraoua L, Liger C, Ratbi I, Cavé H, Sefiani A.

Am J Med Genet A. 2010 Nov;152A(11):2850-3. doi: 10.1002/ajmg.a.33685.

PMID:
20979190
34.

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L.

Clin Genet. 2011 Oct;80(4):367-74. doi: 10.1111/j.1399-0004.2010.01525.x. Epub 2010 Aug 2.

PMID:
20825431
35.

Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report.

Elalaoui SC, Ratbi I, Malih M, Bounasse M, Sefiani A.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1092-4. doi: 10.1016/j.ijporl.2010.06.011. Epub 2010 Jul 15.

PMID:
20637513
36.

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A.

J Fr Ophtalmol. 2010 Feb;33(2):117.e1-5. doi: 10.1016/j.jfo.2009.11.009. Epub 2010 Jan 6. French.

37.

Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.

Jaouad IC, Elalaoui SC, Sbiti A, Elkerh F, Belmahi L, Sefiani A.

J Biosoc Sci. 2009 Sep;41(5):575-81. doi: 10.1017/S0021932009003393. Epub 2009 May 12.

PMID:
19433002

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