S. Chafaï Elalaoui : rechercher sur Z-Library

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1

Natural history of non-lethal Raine syndrome during childhood

Mameli, Chiara, Zichichi, Giulia, Mahmood, Nasim, Elalaoui, Siham Chafai, Mirza, Adnan, Dharmaraj, Poonam, Burrone, Marco, Cattaneo, Elisa, Sheth, Jayesh, Gandhi, Ajit, Kochar, Gurpreet Singh, Alkuray

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 790 KB

2020

2

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

Siham Chafai Elalaoui, Lilia Kraoua, Céline Liger, Ilham Ratbi, Hélène Cavé, Abdelaziz Sefiani

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 130 KB

english, 2010

3

Microdélétion 22q11.2 révélée par une hypocalcémie néonatale avec une dysmorphie faciale mineure

Siham Chafai Elalaoui, Ilham Ratbi, Souad Cherkaoui Deqaqi, Karim Ouldim, Abdelaziz Sefiani

Journal:

Revue Francophone des Laboratoires

Année:

2009

Langue:

french

Fichier:

PDF, 193 KB

french, 2009

4

Duplication colique associée à un mésentère commun révélés par un volvulus du cæcum chez un jeune adulte

A. Alahyane, M. Echarrab, A. Lachkar, H. Belmir, M. El Fahssi, S. Chafaï Elalaoui, R. M’bida, M. El Absi, M. El Ounani, E.H. El Alami El Faricha, M. Amraoui, A. Errougani, A. Jahid, M.R. Chkoff

Journal:

Gastroentérologie Clinique et Biologique

Année:

2009

Langue:

french

Fichier:

PDF, 503 KB

french, 2009

5

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

Yassamine DOUBAJ, Fatima-Zahra LAARABI, Siham CHAFAI ELALAOUI, Amina BARKAT, Abdelaziz SEFIANI

Journal:

The Journal of Dermatology

Année:

2012

Langue:

english

Fichier:

PDF, 202 KB

english, 2012

6

An inherited LMNA gene mutation in atypical progeria syndrome

Yassamine Doubaj, Annachiara De Sandre-Giovannoli, Esteves-Vieira Vera, Claire Laure Navarro, Siham Chafai Elalaoui, Mariam Tajir, Nicolas Lévy, Abdelaziz Sefiani

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 357 KB

english, 2012

7

Autosomal dominant microtia

S. Chafai Elalaoui, I. Cherkaoui Jaouad, L. Rifai, A. Sefiani

Journal:

European Journal of Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 384 KB

english, 2010

8

Severe form of hypoglossia–hypodactylia syndrome associated with complex cardiopathy: A case report

Siham Chafai Elalaoui, Ilham Ratbi, Mohamed Malih, Mohamed Bounasse, Abdelaziz Sefiani

Journal:

International Journal of Pediatric Otorhinolaryngology

Année:

2010

Langue:

english

Fichier:

PDF, 275 KB

english, 2010

9

Première observation maghrébine d’amaurose congénitale de Leber secondaire à une mutation du gène CEP290

Aboussair, N., Berahou, A., Perrault, I., Elalaoui, S. Chafai, Megzari, A., Rozet, J.M., Kaplan, J., Sefiani, A.

Journal:

Journal Français d'Ophtalmologie

Année:

2010

Langue:

french

Fichier:

PDF, 379 KB

french, 2010

10

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

Tajir, Mariam, Arnoux, Jean Baptiste, Boutron, Audrey, Elalaoui, Siham Chafai, De Lonlay, Pascale, Sefiani, Abdelaziz, Brivet, Michèle

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 133 KB

english, 2012

11

Germline mosaicism in Rubinstein–Taybi syndrome

Tajir, Mariam, Fergelot, Patricia, Lancelot, Guenaelle, Elalaoui, Siham Chafai, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 311 KB

english, 2013

12

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

Abdelhafid Natiq,Siham Chafai Elalaoui,Sevrine Miesch…

Journal:

Molecular Cytogenetics

Année:

2014

Langue:

english

Fichier:

PDF, 585 KB

english, 2014

13

A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

Mansouri, Maria, Chafai Elalaoui, Siham, Ouled Amar Bencheikh, Bouchra, El Alloussi, Mohamed, Dion, Patrick A., Sefiani, Abdelaziz, Rouleau, Guy A.

Journal:

Pediatric Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 424 KB

english, 2014

14

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

Courcet, Jean- Benoît, Elalaoui, Siham Chafai, Duplomb, Laurence, Tajir, Mariam, Rivière, Jean-Baptiste, Thevenon, Julien, Gigot, Nadège, Marle, Nathalie, Aral, Bernard, Duffourd, Yannis, Sarasin, Ala

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 597 KB

english, 2015

15

Distribution of allelic and genotypic frequencies ofNAT2andCYP2E1variants in Moroccan population

Guaoua, Soukaina, Ratbi, Ilham, Laarabi, Fatima Zahra, Elalaoui, Siham Chafai, Jaouad, Imane Cherkaoui, Barkat, Amina, Sefiani, Abdelaziz

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 380 KB

english, 2014

16

CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS

JAOUAD, I. CHERKAOUI, ELALAOUI, S. CHAFAÏ, SBITI, A., ELKERH, F., BELMAHI, L., SEFIANI, A.

Journal:

Journal of Biosocial Science

Année:

2009

Langue:

english

Fichier:

PDF, 214 KB

english, 2009

17

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

Cherkaoui Jaouad, Imane, Laarabi, Fatima Z., Chafai Elalaoui, Siham, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Sefiani, Abdelaziz

Journal:

Molecular Syndromology

Année:

2015

Langue:

english

Fichier:

PDF, 255 KB

english, 2015

18

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

Boualla, Lamiae, Tajir, Mariam, Oulahiane, Najat, Lyahyai, Jaber, Laarabi, Fatima Zahra, Chafai Elalaoui, Siham, Soulami, Kenza, Ait Ouamar, Hassan, Sefiani, Abdelaziz

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2015

Langue:

english

Fichier:

PDF, 134 KB

english, 2015

19

A homozygousAHI1gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

Chafai-Elalaoui, Siham, Chalon, Matthias, Elkhartoufi, Nadia, Kriouele, Yamna, Mansouri, Maria, Attié-Bitach, Tania, Sefiani, Abdelaziz, Baala, Lekbir

Journal:

Journal of Medical Case Reports

Année:

2015

Langue:

english

Fichier:

PDF, 3.80 MB

english, 2015

20

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

Mansouri, Maria, Kayserili, Hülya, Elalaoui, Siham Chafai, Nishimura, Gen, Iida, Aritoshi, Lyahyai, Jaber, Miyake, Noriko, Matsumoto, Naomichi, Sefiani, Abdelaziz, Ikegawa, Shiro

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1015 KB

english, 2016

21

Further evidence of POP1 mutations as the cause of anauxetic dysplasia

Elalaoui, Siham Chafai, Laarabi, Fatima Zahra, Mansouri, Maria, Mrani, Nidal Alaoui, Nishimura, Gen, Sefiani, Abdelaziz

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 4.42 MB

english, 2016

22

Non lethal Raine syndrome and differential diagnosis

Elalaoui, Siham Chafai, Al-Sheqaih, Nada, Ratbi, Ilham, Urquhart, Jill E., O'Sullivan, James, Bhaskar, Sanjeev, Williams, Simon S., Elalloussi, Mustapha, Lyahyai, Jaber, Sbihi, Leila, Cherkaoui Jaouad

Journal:

European Journal of Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2016

23

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

Amasdl, Saadia, Natiq, Abdelhafid, Elalaoui, Siham Chafai, Sbiti, Aziza, Liehr, Thomas, Sefiani, Abdelaziz

Journal:

Journal of Medical Case Reports

Année:

2016

Langue:

english

Fichier:

PDF, 890 KB

english, 2016

24

High frequency of the recurrent c.1310_1313delAAGABRCA2mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control

Fatima-Zahra Laarabi,Ilham Ratbi,Siham Chafai Elalaoui…

Journal:

BMC Research Notes

Année:

2017

Langue:

english

Fichier:

PDF, 779 KB

english, 2017

25

A novelTRPS1mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

W. Smaili,S. Chafai Elalaoui,S. Meier,M. Zerkaoui,A. Sefiani…

Journal:

BMC Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 3.01 MB

english, 2017

26

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

Smaili, W., Elalaoui, S. Chafai, Zrhidri, A., Raymond, L., EgÃ©a, G., Taoudi, M., Mouatassim, S.E.L., Sefiani, A., Lyahyai, J.

Journal:

European Journal of Medical Genetics

Année:

2020

Fichier:

PDF, 603 KB

2020