Search Results - "Lyahyai, Jaber"

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature by El Kadiri, Youssef, Ratbi, Ilham, Sefiani, Abdelaziz, Lyahyai, Jaber

“…Background Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or…”
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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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Identification of a novel LAMA2 c.2217G > A, p.(Trp739) mutation in a Moroccan patient with congenital muscular dystrophy: a case report by El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber

“…Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2…”
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Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome by Amllal, Nada, Elalaoui, Siham Chafai, Zerkaoui, Maria, Chiguer, Amal, Afif, Lamia, Izgua, Amal Thimou, Sefiani, Abdelaziz, Lyahyai, Jaber

“…KCI Citation Count: 0…”
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Isolation and characterization of ovine mesenchymal stem cells derived from peripheral blood by Lyahyai, Jaber, Mediano, Diego R, Ranera, Beatriz, Sanz, Arianne, Remacha, Ana Rosa, Bolea, Rosa, Zaragoza, Pilar, Rodellar, Clementina, Martín-Burriel, Inmaculada

“…Mesenchymal stem cells (MSCs) are multipotent stem cells with capacity to differentiate into several mesenchymal lineages. This quality makes MSCs good…”
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Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco by El Kadiri, Youssef, Ratbi, Ilham, Ouhenach, Mouna, Chafai Elalaoui, Siham, Cherkaoui Jaouad, Imane, Zrhidri, Abdelali, Sahli, Maryem

“…Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders…”
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Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report by Benbouchta, Yahya, Cherkaoui Jaouad, Imane, Tazi, Habiba, Elorch, Hamza, Ouhenach, Mouna, Zrhidri, Abdelali, Sadki, Khalid, Sefiani, Abdelaziz, Lyahyai, Jaber, Berraho, Amina

“…Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited…”
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Non lethal Raine syndrome and differential diagnosis by 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, Imane, Sbihi, Abdelhafid, Newman, William G, Sefiani, Abdelaziz

“…Abstract Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized…”
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Prion Protein Gene Variability in Spanish Goats. Inference through Susceptibility to Classical Scrapie Strains and Pathogenic Distribution of Peripheral PrPsc by Acín, Cristina, Martín-Burriel, Inmaculada, Monleón, Eva, Lyahyai, Jaber, Pitarch, José Luis, Serrano, Carmen, Monzón, Marta, Zaragoza, Pilar, Badiola, Juan José

“…Classical scrapie is a neurological disorder of the central nervous system (CNS) characterized by the accumulation of an abnormal, partially protease resistant…”
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Prion protein gene variability in Spanish goats. Inference through susceptibility to classical scrapie strains and pathogenic distribution of peripheral PrP(sc.) by Acín, Cristina, Martín-Burriel, Inmaculada, Monleón, Eva, Lyahyai, Jaber, Pitarch, José Luis, Serrano, Carmen, Monzón, Marta, Zaragoza, Pilar, Badiola, Juan José

“…Classical scrapie is a neurological disorder of the central nervous system (CNS) characterized by the accumulation of an abnormal, partially protease resistant…”
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Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series by Sahli, Maryem, Zrhidri, Abdelali, Elaloui, Siham Chafai, Smaili, Wiam, Lyahyai, Jaber, Oudghiri, Fatima Zohra, Sefiani, Abdelaziz

“…Epilepsy is the most common neurological disorder that causes spontaneous, unprovoked, and recurrent seizures. Epilepsy is clinically and genetically…”
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A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report by Cherkaoui Jaouad, Imane, Zrhidri, Abdelali, Jdioui, Wafaa, Lyahyai, Jaber, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz

“…Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head…”
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In vitro osteoinduction of human mesenchymal stem cells in biomimetic surface modified titanium alloy implants by SANTANDER, Sonia, ALCAINE, Clara, LYAHYAI, Jaber, PÉREZ, Maria Angeles, RODELLAR, Clementina, DOBLARÉ, Manuel, OCHOA, Ignacio

“…Interaction between cells and implant surface is crucial for clinical success. This interaction and the associated surface treatment are essential for…”
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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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Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report by Lyahyai, Jaber, Bencheikh, Bouchra Ouled Amar, Elalaoui, Siham C, Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A, Cossette, Patrick, Rouleau, Guy A, Sefiani, Abdelaziz

“…After publication of the original article [1] it was brought to our attention that author Bouchra Ouled Amar Bencheikh was incorrectly included as Bouchra…”
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Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report by Lyahyai, Jaber, Oulad Amar Bencheikh, Bouchra, Elalaoui, Siham C, Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A, Cossette, Patrick, Rouleau, Guy A, Sefiani, Abdelaziz

“…Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic…”
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In vitro osteoinduction of human mesenchymal stem cells in biomimetic surface modified titanium alloy implants by SANTANDER, Sonia, ALCAINE, Clara, LYAHYAI, Jaber, PÉREZ, Maria Angeles, RODELLAR, Clementina, DOBLARÉ, Manuel, OCHOA, Ignacio

“…This article has been retracted by the Editorial Board of Dental Materials Journal due to violation of our publishing policies and procedures as of December 1,…”
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Gene expression profiling and association with prion-related lesions in the medulla oblongata of symptomatic natural scrapie animals by Filali, Hicham, Martin-Burriel, Inmaculada, Harders, Frank, Varona, Luis, Lyahyai, Jaber, Zaragoza, Pilar, Pumarola, Martí, Badiola, Juan J, Bossers, Alex, Bolea, Rosa

“…The pathogenesis of natural scrapie and other prion diseases remains unclear. Examining transcriptome variations in infected versus control animals may…”
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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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The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin by Ratbi, Ilham, Lyahyai, Jaber, Kabiri, Meryem, Banouar, Meryem, Zerkaoui, Maria, Barkat, Amina, Sefiania, Abdelaziz

“…Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the…”
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