The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome

por Amin, Mutaz, Gragnoli, Claudia
Publicado 2023

Novel Risk Variants in the Oxytocin Receptor Gene (OXTR) Possibly Linked to and Associated with Familial Type 2 Diabetes

por Amin, Mutaz, Wu, Rongling, Gragnoli, Claudia
Publicado 2023

Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome

por Amin, Mutaz, Horst, Nicholas, Gragnoli, Claudia
Publicado 2023

Clinical and Genetic Characteristics of Leukodystrophies in Africa

por Amin, Mutaz, Elsayed, Liena, Ahmed, Ammar Eltahir
Publicado 2017

Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome

por Amin, Mutaz, Horst, Nicholas, Wu, Rongling, Gragnoli, Claudia
Publicado 2023

Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

por Koko, Mahmoud, Abdallah, Mohammed O. E., Amin, Mutaz, Ibrahim, Muntaser
Publicado 2018

Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression

por Amin, Mutaz, Ott, Jurg, Wu, Rongling, Postolache, Teodor T., Gragnoli, Claudia
Publicado 2022

Familial Linkage and Association of the NR3C1 Gene with Type 2 Diabetes and Depression Comorbidity

por Amin, Mutaz, Syed, Shumail, Wu, Rongling, Postolache, Teodor Tudorel, Gragnoli, Claudia
Publicado 2022

Comorbidity of Novel CRHR2 Gene Variants in Type 2 Diabetes and Depression

por Amin, Mutaz, Ott, Jurg, Gordon, Derek, Wu, Rongling, Postolache, Teodor T., Vergare, Michael, Gragnoli, Claudia
Publicado 2022

In Silico Analysis of SNPs in PARK2 and PINK1 Genes That Potentially Cause Autosomal Recessive Parkinson Disease

por Bakhit, Yousuf Hasan Yousuf, Ibrahim, Mohamed Osama Mirghani, Amin, Mutaz, Mirghani, Yousra Abdelazim, Hassan, Mohamed Ahmed Salih
Publicado 2016

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report

por AMIN, MUTAZ, BAKHIT, YOUSUF, KOKO, MAHMOUD, IBRAHIM, MOHAMED OSAMA MIRGAHNI, SALIH, MA, IBRAHIM, MUNTASER, SEIDI, OSHEIK A
Publicado 2019

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

por Kaheel, Hazem, Breß, Andreas, Hassan, Mohamed A., Shah, Aftab Ali, Amin, Mutaz, Bakhit, Yousuf H. Y., Kniper, Marlies
Publicado 2017

Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment

por Kaheel, Hazem, Breß, Andreas, Hassan, Mohamed A., Shah, Aftab Ali, Amin, Mutaz, Bakhit, Yousuf H. Y., Kniper, Marlies
Publicado 2018

ODP258 CRHR1 gene shows extensive linkage to major depression and type 2 diabetes in Italian families

por Amin, Mutaz, del Bosque-Plata, Laura, Gonzalez, Manuel Gea, Wu, Rongling, Postolache, Teodor T, Vergate, Michael, Gordon, Derek, Ott, Jurg, Gragnoli, Claudia
Publicado 2022

Multiplicity of infection and genetic diversity of Plasmodium falciparum isolates from patients with uncomplicated and severe malaria in Gezira State, Sudan

por Mahdi Abdel Hamid, Muzamil, Elamin, Arwa F., Albsheer, Musab M. Ali, Abdalla, Abdelmohaymin A. A., Mahgoub, Nouh S., Mustafa, Shaza O., Muneer, Mohamed SiddigEltayeb, Amin, Mutaz
Publicado 2016

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

por Yahia, Ashraf, Elsayed, Liena, Babai, Arwa, Salih, Mustafa A., El-Sadig, Sarah Misbah, Amin, Mutaz, Koko, Mahmoud, Abubakr, Rayan, Idris, Razaz, Taha, Shaimaa Omer M.A., Elmalik, Salah A., Brice, Alexis, Ahmed, Ammar Eltahir, Stevanin, Giovanni
Publicado 2018

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

por Elsayed, Liena E. O., Mohammed, Inaam N., Hamed, Ahlam A. A., Elseed, Maha A., Salih, Mustafa A. M., Yahia, Ashraf, Siddig, Rayan A., Amin, Mutaz, Koko, Mahmoud, Elbashir, Mustafa I., Ibrahim, Muntaser E., Brice, Alexis, Ahmed, Ammar E., Stevanin, Giovanni
Publicado 2018

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

por Amin, Mutaz, Vignal, Cedric, Eltaraifee, Esraa, Mohammed, Inaam N., Hamed, Ahlam A. A., Elseed, Maha A., Babai, Arwa, Elbadi, Iman, Mustafa, Doua, Abubaker, Rayan, Mustafa, Mohamed, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen
Publicado 2022

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

por Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Abubaker, Rayan, Bakhit, Yousuf, Babai, Arwa, Elbadi, Eman, Eltaraifee, Esraa, Mustafa, Doua, Yahia, Ashraf, Osman, Melka, Koko, Mahmoud, Mustafa, Mohamed, Alsiddig, Mohamed, Haroun, Sahwah, Elshafea, Azza, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen
Publicado 2022

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease m...

por Roberts, Angharad M, DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S, Alkuraya, Fowzan S, Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, van Sant, David, Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.
Publicado 2023