S. Elalaoui

发表

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

I. Jaouad, S. Elalaoui, A. Sbiti, 2009, Journal of biosocial science.

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

J. Rivière, J. Thevenon, L. Faivre, 2014, European Journal of Human Genetics.

An inherited LMNA gene mutation in atypical Progeria syndrome

N. Lévy, M. Tajir, S. Elalaoui, 2012, American journal of medical genetics. Part A.

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

Saaïd Amzazi, Philippe Jonveaux, Abdelaziz Sefiani, 2014, Molecular Cytogenetics.

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

I. Jaouad, S. Elalaoui, F. Laarabi, 2013, Asian Pacific journal of cancer prevention : APJCP.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

P. Fergelot, D. Lacombe, B. Arveiler, 2021, African health sciences.

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

N. Lahrouchi, C. Bezzina, M. Alders, 2018, Anatolian journal of cardiology.

Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.

L. Raymond, J. Lyahyai, S. Elalaoui, 2020, European journal of medical genetics.

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

A. Barkat, I. Jaouad, S. Elalaoui, 2014, BMC Genetics.

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

S. Elalaoui, A. Sefiani, G. Pérez de Nanclares, 2013, Molecular Syndromology.

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

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report

J. Altmüller, Yun Li, B. Wollnik, 2021, The Pan African Medical Journal.

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

K. Heinimann, S. Elalaoui, A. Sefiani, 2017, BMC Medical Genetics.

Germline mosaicism in Rubinstein-Taybi syndrome.

P. Fergelot, D. Lacombe, B. Arveiler, 2013, Gene.

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

L. Bouguenouch, K. Ouldim, S. Elalaoui, 2017, BMC Research Notes.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

S. Twigg, L. Ousager, C. Fagerberg, 2016, Clinical genetics.

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region

J. Lyahyai, I. Jaouad, S. Elalaoui, 2022, Breast Cancer Research and Treatment.

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

T. Liehr, S. Amzazi, S. Elalaoui, 2014, Indian journal of human genetics.

Further evidence of POP1 mutations as the cause of anauxetic dysplasia

G. Nishimura, S. Elalaoui, A. Sefiani, 2016, American journal of medical genetics. Part A.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

K. Devriendt, C. Woods, P. Gressens, 2018, Human mutation.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

Moroccan consanguineous family with Becker myotonia and review

S. Elalaoui, A. Sefiani, J. Molano, 2011, Annals of Indian Academy of Neurology.

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

P. Amouyel, E. Letouzé, M. Kretzler, 2018, Journal of the American Society of Nephrology : JASN.

Two Infants with Beckwith-Wiedemann Syndrome

S. Elalaoui, A. Sefiani, I. Ratbi, 2010 .

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

H. Cavé, S. Elalaoui, A. Sefiani, 2010, American journal of medical genetics. Part A.

A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

M. Azouz, S. Elalaoui, A. Sefiani, 2015, Molecular Syndromology.

Report of the First Moroccan Case of Fusion of Metacarpals 4/5 and Review of the Literature

I. Jaouad, S. Elalaoui, A. Sefiani, 2014 .

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

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability

T. Liehr, S. Elalaoui, A. Sbiti, 2022, Ophthalmic genetics.

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

T. Liehr, S. Elalaoui, A. Sbiti, 2016, Journal of Medical Case Reports.

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

M. Raynaud, S. Elalaoui, A. Sefiani, 2010, The Turkish journal of pediatrics.

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

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2018, BMC Pediatrics.

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

P. de Lonlay, M. Tajir, J. Arnoux, 2012, European journal of medical genetics.

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

L. Bouguenouch, K. Ouldim, S. Elalaoui, 2017, BMC Research Notes.

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

Abdelaziz Sefiani, S. Elalaoui, A. Sefiani, 2016, Oncology letters.

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

I. Perrault, N. Aboussair, S. Elalaoui, 2010, Journal francais d'ophtalmologie.

Non lethal Raine syndrome and differential diagnosis.

W. Newman, S. Bhaskar, J. Lyahyai, 2016, European journal of medical genetics.

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

S. Elalaoui, R. Ilham, Tajir Mariam, 2011, Indian journal of human genetics.

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

S. Elalaoui, A. Sefiani, I. Ratbi, 2010, International journal of pediatric otorhinolaryngology.

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

M. Pineda, D. Grinberg, A. Chabás, 2011, Clinical genetics.

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome

J. Lyahyai, S. Elalaoui, A. Sefiani, 2023, Annals of laboratory medicine.

Natural history of non-lethal Raine syndrome during childhood

F. Alkuraya, M. Kabra, C. Mameli, 2020, Orphanet Journal of Rare Diseases.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

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

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.