Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Saadia Amasdl"'
Autor:
Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl, Aziza Sbiti, Dominique Smeets, Khalid Sadki, Abdelaziz Sefiani
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Abstract Background 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay,
Externí odkaz:
https://doaj.org/article/5c796aaa3d7a4ab982bd4678fa3921b3
Autor:
Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 15, Iss 1, Pp 1-6 (2017)
Abstract Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the geneti
Externí odkaz:
https://doaj.org/article/27d28f4c1c0c4a92b08b62c0ea7daab3
Autor:
Nicole de Leeuw, Aziza Sbiti, Saadia Amasdl, Dominique Smeets, Khalid Sadki, Yahya Benbouchta, Abdelaziz Sefiani
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Italian Journal of Pediatrics, 47, 1
Italian Journal of Pediatrics, 47
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Italian Journal of Pediatrics, 47, 1
Italian Journal of Pediatrics, 47
Background 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microceph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4d68d2869db947bffbc2cc5856ef1a
https://doi.org/10.21203/rs.3.rs-34129/v2
https://doi.org/10.21203/rs.3.rs-34129/v2
Autor:
B. Chkirate, Hanane Elouardi, Grégory Egéa, Laure Raymond, Mohamed Taoudi, Said El Mouatassim, Abdelali Zrhidri, Jaber Lyahyai, Saadia Amasdl, Abdelaziz Sefiani
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 15, Iss 1, Pp 1-6 (2017)
Pediatric Rheumatology Online Journal, Vol 15, Iss 1, Pp 1-1 (2017)
Pediatric Rheumatology Online Journal
Pediatric Rheumatology
Pediatric Rheumatology Online Journal, Vol 15, Iss 1, Pp 1-1 (2017)
Pediatric Rheumatology Online Journal
Pediatric Rheumatology
Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis f
Autor:
Amale Hassani, Abdelhafid Natiq, Aziza Sbiti, Damien Sanlaville, Saadia Amasdl, Abdelaziz Sefiani, Wiam Smaili, Aomar Agadr
Publikováno v:
Cytogenetic and Genome Research. 153:66-72
Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellec
Autor:
Saadia, Amasdl, Wiam, Smaili, Abdelhafid, Natiq, Amale, Hassani, Aziza, Sbiti, Aomar, Agadr, Damien, Sanlaville, Abdelaziz, Sefiani
Publikováno v:
Cytogenetic and genome research. 153(2)
Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellec
Autor:
Saadia Amasdl, Aziza Sbiti, Abdelhafid Natiq, Siham Chafai Elalaoui, Abdelaziz Sefiani, Thomas Liehr
Publikováno v:
Journal of Medical Case Reports
Background 9p duplication is a structural chromosome abnormality, described in more than 150 patients to date. In most cases the duplicated segment was derived from a parent being a reciprocal translocation carrier. However, about 15 cases with de no
Autor:
Katharina Kreskowski, Abdelhafid Natiq, Britta Meyer, Thomas Liehr, Ilhame Ratbi, Saaid Amzazi, Abdelaziz Sefiani, Saadia Amasdl
Publikováno v:
Journal of Pediatrics & Neonatal Care. 1
p13 deletion Syndrome or WAGR is an acronym for Wilms tumor, aniridia, genitourinary anomalies and mental retardation; accordingly WAGR syndrome is a rare contiguous gene syndrome characterized by a de novo deletion in the distal band of 11p13 region
Autor:
Marco Baccarin, Mirlene C. S. P. Cernach, Aomar Agadr, Patrik F. Viana, Mileny E. S. Colovati, Amale Hassani, Saadia Amasdl, Tariq Ezaz, Silvia Bragagnolo, Leandro Marajó, Massimo Giovannotti, Tahar Slimani, Marcelo de Bello Cioffi, Druckerei Stückle, Andréa Cristina de Moraes Malinverni, Alessio Paoletti, Luiz Antonio Carlos Bertollo, Silvana Guerneri, Jansen Zuanon, Andrea Splendiani, Kelin Chen, Abdelaziz Sefiani, Abdelhafid Natiq, Erika M. Yamashiro Coelho, Ettore Olmo, Adnane Fawzi, Olga Raskina, Maria Claudia Gross, Sara Giangiobbe, Rosamaria Silipigni, Faustina Lalatta, Maria Francesca Bedeschi, Maria Isabel Melaragno, Satz Mengensatzproduktion, Damien Sanlaville, Milena Ferreira, Eliana Feldberg, Vincenzo Caputo Barucchi, Edoardo Monfrini, Wiam Smaili, Paola Nisi Cerioni, Aziza Sbiti
Publikováno v:
Cytogenetic and Genome Research. 153:55-55
Autor:
Jaber Lyahyai, Saadia Amasdl, Maria Zerkaoui, Abdelhafid Natiq, Aziza Sbiti, Thomas Liehr, Saaid Amzazi, Abdelaziz Sefiani
Publikováno v:
BMC Research Notes
Background Orofacial cleft (OFC) is one of the most common congenital malformations with a global incidence of approximately 1/700 live births. Clinically, OFCs can be syndromic or non-syndromic. Case presentation A 5 years old boy admitted for genet