Search Results - "Amasdl, Saadia"

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome by Ouboukss, Fatima, Adadi, Najlae, Amasdl, Saadia, Smaili, Wiam, Laarabi, Fatima Zahra, Lyahyai, Jaber, Sefiani, Abdelaziz, Ratbi, Ilham

“…Noonan syndrome (NS; OMIM 163950) is an autosomal dominant RASopathy with variable clinical expression and genetic heterogeneity. Clinical manifestations…”
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15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review by Benbouchta, Yahya, De Leeuw, Nicole, Amasdl, Saadia, Sbiti, Aziza, Smeets, Dominique, Sadki, Khalid, Sefiani, Abdelaziz

“…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,…”
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Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease by Zrhidri, Abdelali, Amasdl, Saadia, Lyahyai, Jaber, Elouardi, Hanane, Chkirate, Bouchra, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz

“…Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the…”
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Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness by Amasdl, Saadia, Smaili, Wiam, Natiq, Abdelhafid, Hassani, Amale, Sbiti, Aziza, Agadr, Aomar, Sanlaville, Damien, Sefiani, Abdelaziz

“…Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous…”
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Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report by Amasdl, Saadia, Natiq, Abdelhafid, Elalaoui, Siham Chafai, Sbiti, Aziza, Liehr, Thomas, Sefiani, Abdelaziz

“…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…”
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20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature by Amasdl, Saadia, Natiq, Abdelhafid, Sbiti, Aziza, Zerkaoui, Maria, Lyahyai, Jaber, Amzazi, Saaid, Liehr, Thomas, Sefiani, Abdelaziz

“…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…”
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