Zobrazeno 1 - 10
of 130
pro vyhledávání: '"HATEM EL-SHANTI"'
Autor:
Yasser Al-Sarraj, Rowaida Z. Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E. Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M. E. Albagha
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD
Externí odkaz:
https://doaj.org/article/1cb66fb1f0d64cfb9ab254e423381745
Autor:
Moon Ley Tung, Bharatendu Chandra, Jaime Nagy, Hatem El-Shanti, John Bernat, Nicole Safina, Amy Calhoun, Georgianne Younger, Kyle Dillahunt, Anna Paulson, Taylor Warner, Hannah Bombei, Jaclyn Kotlarek
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101042- (2024)
Externí odkaz:
https://doaj.org/article/b2b7c1079f2b45f5abca257c496630cf
Autor:
Polly J. Ferguson, Hatem El-Shanti
Publikováno v:
Biomolecules, Vol 11, Iss 3, p 367 (2021)
Majeed syndrome is a multi-system inflammatory disorder affecting humans that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a neutrophilic dermatosis. The disease is an autosomal recessive disord
Externí odkaz:
https://doaj.org/article/01ef68da689a4ea3bfea0185b938e8a3
Autor:
Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005022 (2015)
Epilepsy is a common disabling disease with complex, multifactorial genetic and environmental etiology. The small fraction of epilepsies subject to Mendelian inheritance offers key insight into epilepsy disease mechanisms; and pathologies brought on
Externí odkaz:
https://doaj.org/article/c8c9d088c9034e5f95796391fbe65f07
Autor:
Yasser Al-Sarraj BSC, Tawfeg Ben-Omran MD, Mohammed Tolefat MBBS, Yosra Bejaoui MSc, Hatem El-Shanti MD, Marios Kambouris PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 2 (2014)
A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the
Externí odkaz:
https://doaj.org/article/2892747a39bc456f9bce7d7112296d43
Autor:
Lily Paemka, Vinit B Mahajan, Jessica M Skeie, Levi P Sowers, Salleh N Ehaideb, Pedro Gonzalez-Alegre, Toshikuni Sasaoka, Hirotaka Tao, Asuka Miyagi, Naoto Ueno, Keizo Takao, Tsuyoshi Miyakawa, Shu Wu, Benjamin W Darbro, Polly J Ferguson, Andrew A Pieper, Jeremiah K Britt, John A Wemmie, Danielle S Rudd, Thomas Wassink, Hatem El-Shanti, Heather C Mefford, Gemma L Carvill, J Robert Manak, Alexander G Bassuk
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e80737 (2013)
The frequent comorbidity of Autism Spectrum Disorders (ASDs) with epilepsy suggests a shared underlying genetic susceptibility; several genes, when mutated, can contribute to both disorders. Recently, PRICKLE1 missense mutations were found to segrega
Externí odkaz:
https://doaj.org/article/56d27ee6f5524f0d8f722b7539487b5c
Publikováno v:
Clinical neurology and neurosurgery. 217
Identify the genetic determinants of congenital muscle dystrophy (CMD) in Jordanian children.This prospective study included patients suspected to have CMD. Singleton whole-exome sequencing (WES) was performed as the first-tier diagnostic test.44 pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2460d6d25ec6c19fd1aeed5b4f737dac
https://pubmed.ncbi.nlm.nih.gov/35533453
https://pubmed.ncbi.nlm.nih.gov/35533453
Autor:
Bharatendu Chandra, Moon Ley Tung, Alpa Sidhu, Heather Major, Amy Calhoun, John Bernat, Jaime Nagy, Hatem El-Shanti, Benjamin Darbro
Publikováno v:
Genetics in Medicine. 24:S61-S62
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4750254f8f31a43bb4a845e5458ff066
https://doi.org/10.1016/j.gim.2022.01.131
https://doi.org/10.1016/j.gim.2022.01.131
Autor:
Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti
Publikováno v:
Genes. 13:1649
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3), with con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc2f3ef9e2cbd81deef397c35bea78d4
https://doi.org/10.3390/genes13091649
https://doi.org/10.3390/genes13091649
Autor:
Rowaida Z. Taha, Mohammed Tolfat, Dina Ahram, Omar M. E. Albagha, Fouad Alshaban, Yasser Al-Sarraj, Eman K. Al-Dous, Hatem El-Shanti
Publikováno v:
Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 761, p 761 (2021)
Volume 12
Issue 5
Genes, Vol 12, Iss 761, p 761 (2021)
Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by abnormalities in language and social communication with substantial clinical heterogeneity. Genetic factors play an important role in ASD with heritability estimated betw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9514d8890157cb36e3dda026b1f6bab