نتائج البحث - "Simin Rahimi-Aliabadi"

1

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

المؤلفون: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C.E. Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J.L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, Gregory M. Cooper

المساهمون: Human Genetics, Amsterdam Cardiovascular Sciences, Human genetics, CCA - Cancer biology and immunology, HudsonAlpha Institute for Biotechnology [Huntsville, AL], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Clinical Genetics

المصدر: American journal of human genetics, 110(2), 215-227. Cell Press
Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, ' Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype ', American journal of human genetics, vol. 110, no. 2, pp. 215-227 . https://doi.org/10.1016/j.ajhg.2022.12.007Test
American Journal of Human Genetics
American Journal of Human Genetics, 2023, 110 (2), pp.215-227. ⟨10.1016/j.ajhg.2022.12.007⟩
American Journal of Human Genetics, 110(2), 215-227. Cell Press

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, ZMYM3, transcriptional coregulators, MESH: Phenotype, MESH: Gene Expression Regulation, MESH: Nervous System Malformations, neurodevelopmental disorder, MESH: Male, MESH: Intellectual Disability, X-linked intellectual disability, chromatin modifiers, MESH: Histone Demethylases, Genetics, MESH: Female, MESH: Face, MESH: Nuclear Proteins, Genetics (clinical), MESH: Neurodevelopmental Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9940ea52913c5bbdc54a98d0f9168154Test
https://pure.amc.nl/en/publications/deleterious-proteinaltering-variants-in-the-transcriptional-coregulator-zmym3-in-27-individuals-with-a-neurodevelopmental-delay-phenotypeTest(b3792507-cf7f-4240-a6b2-5cc40fd0a55c).html

2

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

المؤلفون: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C. E. Hurst, Pascal Joset, Stanislav Kmoch, Benjamin R. Leadem, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J. L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine Nowak, Amanda G. Noyes, Matthew Osmond, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Richard M. Myers, Gregory M. Cooper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68bc5998075e24b5d233adf3505f0a1eTest
https://doi.org/10.1101/2022.09.29.22279724Test

3

Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy

المؤلفون: Narsis Daftarian, Javad Jamshidi, Babak Emamalizadeh, Fatemeh Suri, Simin Rahimi-Aliabadi, Hossein Darvish, Hamid Ahmadieh, Faezeh Jamali, Marjan Chapi, Elham Alehabib, Mehraban Mirrahimi, Hamideh Sabbaghi

المصدر: Ophthalmic Genetics. 40:259-266

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::346e4128c12b04fc766924853d9b2088Test
https://doi.org/10.1080/13816810.2019.1622023Test

4

Support for 'Disease-Only' Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia

المؤلفون: Shaghyegh Taghavi, Simin Rahimi-Aliabadi, Haleh Akhavan-Niaki, Neda Shahmohammadibeni, Javad Jamshidi, Ramin Pouriran, Farhad Ramezani Nejad, Ehteram Khademi, Parasto Shokraeian, Elham Alehabib, Coro Paisán-Ruiz, Ehsan Esmaili Shandiz, Mina Ohadi, Monavvar Andarva, Nader Mansoori, Azadeh Ahmadifard, Hossein Darvish

المصدر: Genetic Testing and Molecular Biomarkers. 21:485-490

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::927af9cfb798cda161819115f2722fc7Test
https://doi.org/10.1089/gtmb.2016.0422Test

5

Incomplete penetrance of

المؤلفون: Marjan, Chapi, Hamideh, Sabbaghi, Fatemeh, Suri, Elham, Alehabib, Simin, Rahimi-Aliabadi, Faezeh, Jamali, Javad, Jamshidi, Babak, Emamalizadeh, Hossein, Darvish, Mehraban, Mirrahimi, Hamid, Ahmadieh, Narsis, Daftarian

المصدر: Ophthalmic genetics. 40(3)

مصطلحات موضوعية: Adult, Homeodomain Proteins, Male, Adolescent, Visual Acuity, Penetrance, Middle Aged, Polymorphism, Single Nucleotide, Pedigree, Young Adult, Phenotype, Child, Preschool, Exome Sequencing, Trans-Activators, Humans, Female, Child, Cone-Rod Dystrophies, Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f8f8d9e346ac73cb1444563330e86085Test
https://pubmed.ncbi.nlm.nih.gov/31215831Test

6

A genetic variant in miRNA binding site of glutamate receptor 4, metabotropic (GRM4) is associated with increased risk of major depressive disorder

المؤلفون: Simin Rahimi-Aliabadi, Hamid Ghaedi, Hossein Darvish, Abbas Tafakhori, Parasto Shokraeian, Tahereh Dadkhah, Haleh Akhavan-Niaki, Mina Ohadi, Shaghyegh Taghavi, Javad Jamshidi

المصدر: Journal of affective disorders. 208

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9ec948f9240635a529c04f59cf5e6bTest
https://pubmed.ncbi.nlm.nih.gov/27792966Test

7

Functional Genetic Variants of FOXP3 and Risk of Multiple Sclerosis

المؤلفون: Habib Ahmadi, Babak Emamalizadeh, Javad Jamshidi, Abolfazl Movafagh, Simin Rahimi-Aliabadi, Milad Gholami, Hossein Darvish, Mohammad Reza Eslami Amirabadi

المصدر: Iranian Red Crescent Medical Journal. 19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a7231b02403a7093a3c26cab01d2b5edTest
https://doi.org/10.5812/ircmj.34597Test

8

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome

المؤلفون: Azadeh Ahmadifard, Hossein Darvish, Monavvar Andarva, Babak Emamalizadeh, Elham Alehabib, Hamid Ahmadieh, Abbas Tafakhori, Hamid Ghaedi, Simin Rahimi-Aliabadi, Parasto Shokraeian, Rezvan Noroozi, Javad Jamshidi, Shaghyegh Taghavi, Narsis Daftarian, Minoo Atakhorrami

المصدر: Eye (London, England). 30(11)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a2c7b6da3bb6818e2155dbf3edde7f6Test
https://pubmed.ncbi.nlm.nih.gov/27419834Test

9

c.376GA mutation in WFS1 gene causes Wolfram syndrome without deafness

المؤلفون: Hamid Ghaedi, Mehdi Khorrami, Monavvar Andarva, Babak Emamalizadeh, Narsis Daftarian, Elham Alehabib, Shaghayegh Taghavi, Farhad Assarzadegan, Omid Hesami, Minoo Atakhorrami, Javad Jamshidi, Azadeh Ahmadifard, Behnam Safarpour Lima, Neda Shahmohammadibeni, Hossein Darvish, Nasim Sohrabifar, Rezvan Noroozi, Simin Rahimi-Aliabadi, Hamid Ahmadieh

المصدر: European journal of medical genetics. 59(2)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc9d7db39ac1b8f5347fc2bc12441a12Test
https://pubmed.ncbi.nlm.nih.gov/26773575Test

10

The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson's disease in Iranian population

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 37(5)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Neurology, Parkinson's disease, Genotype, Dermatology, Disease, Iran, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Gene Frequency, Polymorphism (computer science), Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Allele frequency, Genetic Association Studies, Aged, business.industry, Genetic heterogeneity, Tumor Suppressor Proteins, Membrane Proteins, Parkinson Disease, General Medicine, Middle Aged, medicine.disease, Psychiatry and Mental health, 030104 developmental biology, Etiology, alpha-Synuclein, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::560834c8f76d74818e75ae469d17a41eTest
https://pubmed.ncbi.nlm.nih.gov/26732583Test

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