Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Jehan Suleiman"'
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, neurometabolic disorder resulting from biallelic mutations in the dopa decarboxylase (DDC) gene. This is the first reported case of AADC deficiency in the United Arab Emirates (UAE) and
Externí odkaz:
https://doaj.org/article/03ae95a3ec6d4f07ac09c3092052a5fb
Autor:
Nesreen K. Al-Jezawi, Aisha M. Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R. Ali, Lihadh Al-Gazali
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Background Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH can be reduced if the
Externí odkaz:
https://doaj.org/article/9cd1a86a2ef24357a99cc435d2c1a6d7
Autor:
Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to seg
Externí odkaz:
https://doaj.org/article/3a2aa9527448442697661b0790640a28
Autor:
Shuk Ching, Chong, Ye, Cao, Eva L W, Fung, Soledad, Kleppe, Karen W, Gripp, Jozef, Hertecant, Ayman W, El-Hattab, Jehan, Suleiman, Gary, Clark, Gretchen, von Allmen, Olga, Rodziyevska, Richard A, Lewis, Jill A, Rosenfeld, Jie, Dong, Xia, Wang, Marcus J, Miller, Weimin, Bi, Pengfei, Liu, Fernando, Scaglia
Publikováno v:
American Journal of Medical Genetics Part A. 191:776-785
WWOX biallelic loss-of-function pathogenic single nucleotide variants (SNVs) and copy number variants (CNVs) including exonic deletions and duplications cause WWOX-related epileptic encephalopathy (WOREE) syndrome. This disorder is characterized by r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccd7e7fe9b159cc8bba955b0cba515b
https://doi.org/10.1002/ajmg.a.63074
https://doi.org/10.1002/ajmg.a.63074
Autor:
Musaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, Khalid Hundallah, Jehan Suleiman, Tawfeg Ben-Omran, Majid Alfadhel, Mohammed Almannai, Rehab Alsaleh, Brahim Tabarki
Publikováno v:
European Journal of Pediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::511e5c2a73f0b1ad982ac1d0a7282bd6
https://doi.org/10.1007/s00431-023-05012-1
https://doi.org/10.1007/s00431-023-05012-1
Autor:
Musaad Abukhaled, Mohammed Al Muqbil, Malak Ali Alghamdi, Khalid Hundallah, Jehan Suleiman, Tawfeg Ben-Omran, Majid Alfadhel, Mohammed Almannai, Rehab Alsaleh, Brahim Tabarki
Publikováno v:
European Journal of Pediatrics.
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited neurometabolic disorder that can lead to severe physical and developmental impairment. This report includes 16 patients from the Middle East and is the largest series of patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d26142e1ab3d79a92f343603be745f6
https://doi.org/10.1007/s00431-023-04886-5
https://doi.org/10.1007/s00431-023-04886-5
Autor:
Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Robert Kopajtich, Thomas Meitinger, Jehan Suleiman, Ayman W El-Hattab
Publikováno v:
Hum Mol Genet
Hum. Mol. Genet. 31, 3083-3094 (2022)
Hum. Mol. Genet. 31, 3083-3094 (2022)
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82b1a14904cdc0173758c0e7464c36e
https://pubmed.ncbi.nlm.nih.gov/35512351
https://pubmed.ncbi.nlm.nih.gov/35512351
Autor:
Vasiliki Karageorgou, Jehan Suleiman, Peter Bauer, Ameni Kdissa, Ayman W. El-Hattab, Christian Beetz, Najim Ameziane, V. Reid Sutton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5262f33827680149579e665b6691474f
https://doi.org/10.1111/cge.13690/v3/response1
https://doi.org/10.1111/cge.13690/v3/response1
Publikováno v:
Neuropediatrics. 49:289-295
Mutations in B3GALNT2, encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a12eaf0241b8b964716386334dc62bc8
https://doi.org/10.1055/s-0038-1651519
https://doi.org/10.1055/s-0038-1651519
Publikováno v:
Clinical Genetics. 94:170-173
We report a 20p12.1 homozygous deletion including exons 5-10 of the TASP1 gene in an infant with developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal, cardiac, and renal systems
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920bd1c9ebaba772f5cce2b7719e070a
https://doi.org/10.1111/cge.13258
https://doi.org/10.1111/cge.13258