Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Wiam Smaili"'
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases. Next Generat
Externí odkaz:
https://doaj.org/article/73ccf1b279ef44698f4dc32911f5f0af
Autor:
Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani
Publikováno v:
Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-4 (2019)
Abstract Background Epilepsy is the most common neurological disorder that causes spontaneous, unprovoked, and recurrent seizures. Epilepsy is clinically and genetically heterogeneous with various modes of inheritance. The complexity of epilepsy pres
Externí odkaz:
https://doaj.org/article/f14cf80f3a81429baa12ad5e0a598c86
Publikováno v:
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-4 (2017)
Abstract Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been ass
Externí odkaz:
https://doaj.org/article/212d9dc704324fb5841cb5f98bcef25a
Autor:
Benoit Arveiler, Didier Lacombe, Ilham Ratbi, Siham Chafai Elalaoui, Mariam Tajir, Julien Van-Gils, Wiam Smaili, Patricia Fergelot, Abdelaziz Sefiani
Publikováno v:
African Health Sciences
African Health Sciences, Makerere University Medical School, 2021, 21 (2), pp.960-967. ⟨10.4314/ahs.v21i2.58⟩
African Health Sciences, Makerere University Medical School, 2021, 21 (2), pp.960-967. ⟨10.4314/ahs.v21i2.58⟩
Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aa4c8b81bedaf06ab98e254aae5c9cb
https://hal.archives-ouvertes.fr/hal-03403752
https://hal.archives-ouvertes.fr/hal-03403752
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases. Next Generation Seque
Autor:
Bouchra Ghazi, Wiam Smaili, Abdul Hafeez Kandhro, Imane Himri, Kanwal Tariq, Abdeslam Jaafari, Adel Gouri, Khalid El Bairi
Publikováno v:
Cancer Genetics. 220:49-76
Colorectal cancer (CRC) is very heterogeneous and presents different types of epigenetic alterations including DNA methylation, histone modifications and microRNAs. These changes are considered as characteristics of various observed clinical phenotyp
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:
David Mowat, Erica Jacobson, Lucy Bowyer, Wiam Smaili, Imane Cherkaoui Jaouad, Mathew J Wallis, Alessandra Baumer, Abdelaziz Sefiani, Anita Rauch
Publikováno v:
European journal of medical genetics. 61(4)
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of a
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
Background Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyse