Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Bader, Alhaddad"'
Autor:
Mariam M. Al Eissa, Raniah S. Alotibi, Bader Alhaddad, Taghrid Aloraini, Manar S. Samman, Abdulrahman AlAsiri, Mohamed Abouelhoda, Amerh S. AlQahtani
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Physicians face diagnostic dilemmas upon reports indicating disease variants of unknown significance (VUS). The most puzzling cases are patients with rare diseases, where finding another matched genotype and phenotype to associate their
Externí odkaz:
https://doaj.org/article/95ac75cb26ba4c4f8cf5594da067c504
Autor:
Amerh S. Alqahtani, Raniah S. Alotibi, Taghrid Aloraini, Fahad Almsned, Yara Alassali, Ahmed Alfares, Bader Alhaddad, Mariam M. Al Eissa
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Rare diseases (RDs) create a massive burden for governments and families because sufferers of these diseases are required to undergo long-term treatment or rehabilitation to maintain a normal life. In Saudi Arabia (SA), the prevalence o
Externí odkaz:
https://doaj.org/article/a833fb18a8b94d34b8880c29e369f3f4
Autor:
Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, Erich Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1319-1326 (2019)
Abstract A recurrent de novo missense variant in KCNC1, encoding a voltage‐gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability.
Externí odkaz:
https://doaj.org/article/6c5fac79b9f542b2975de3d0a57bfdce
Autor:
Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal
Publikováno v:
Am J Hum Genet
Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcbe96535e30d1bd009e97bf4064b59
https://hdl.handle.net/11588/907834
https://hdl.handle.net/11588/907834
Autor:
Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele
Publikováno v:
Frontiers in Pediatrics, Vol 5 (2017)
IntroductionCongenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused b
Externí odkaz:
https://doaj.org/article/4c07d947c4734fa6b0bc5f84ae90d60e
Autor:
Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann
Publikováno v:
Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic finding
Autor:
Bader Alhaddad, Matej Skorvanek, Erik-Jan Kamsteeg, Petra Dosekova, Katharina Vill, Michael Zech, Zuzana Gdovinova, Riccardo Berutti, Irina Hüning, Jasper J. van der Smagt, Britta Hanker, Tim M. Strom, Evžen Růžička, Vladimír Haň, Matias Wagner, Theresa Brunet, Robert Jech, Astrid Blaschek, Juliane Winkelmann
Publikováno v:
Parkinsonism & Related Disorders, 77, 70-75
Parkinsonism & Related Disorders, 77, pp. 70-75
Parkinsonism & Related Disorders, 77, pp. 70-75
Introduction The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia type 75. To date, only four families with biallelic missense variants in MAG have been reported. The genotypic and pheno
Autor:
Thomas Meitinger, Ortal Barel, Ertan Mayatepek, Dirk Klee, Tim M. Strom, Dagmar Wieczorek, Felix Distelmaier, Fuad Al Mutairi, Yezmin Perilla-Young, Marc Remke, Fowzan S. Alkuraya, Laurie A. Demmer, Cynthia M. Powell, Annette Seibt, Yuliya Skorobogatko, Tharsini Navaratnarajah, Peter Lichtner, Hanan E. Shamseldin, Bader Alhaddad, Matias Wagner, Alan R. Saltiel, Chen Hoffmann, Gali Heimer, Yair Anikster, Ben Pode-Shakked
Publikováno v:
American journal of human genetics, vol 106, iss 2
Am. J. Hum. Genet. 106, 246-255 (2020)
Am J Hum Genet
Am. J. Hum. Genet. 106, 246-255 (2020)
Am J Hum Genet
Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indi
Autor:
Husain Ra, Thomas Meitinger, Wilichowski E, Robert Kopajtich, Smirnov D, Ewa Pronicka, Christine Makowski, Elżbieta Ciara, Michael Wagner, Felix Distelmaier, René Santer, Olsen R, Wolstein T, Theresa Brunet, Muller-Felber W, Buchner B, Wolfgang Sperl, Maja Hempel, Stefan Kölker, Dominic Lenz, Sarah L. Stenton, Saskia B. Wortmann, Leiz S, Kei Murayama, Munoz-Pujol G, Konstantopoulou, Xu M, Tobias B. Haack, Tim M. Strom, Riccardo Berutti, Tsygankova P, Lim Az, Daniele Ghezzi, Robert McFarland, Deen D, Kotzaeridou U, Daniela Karall, Ardissone A, Charlotte L. Alston, Markus Schuelke, Thomas Klopstock, Peter Freisinger, Robert W. Taylor, Ban R, Verloo P, van Coster R, Shimura M, Agnès Rötig, Dariusz Rokicki, Yepez, Mandel H, Akira Ohtake, Angela Pyle, Yasushi Okazaki, Mirjana Gusic, Antonia Ribes, Costanza Lamperti, Fang F, Holger Prokisch, von Kleist-Retzow J, Ivo Barić, Julien Gagneur, Bader Alhaddad, Dorota Piekutowska-Abramczuk, Johannes A. Mayr, Michael Zech, Frederic Tort, Schiff M
BackgroundThe spectrum of mitochondrial disease is genetically and phenotypically diverse, resulting from pathogenic variants in over 400 genes, with aerobic energy metabolism defects as a common denominator. Such heterogeneity poses a significant ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::477c1c8ee5e39ca98f55206e438dd9a3
https://doi.org/10.1101/2021.06.21.21259171
https://doi.org/10.1101/2021.06.21.21259171
Autor:
Muhammad Bilal, Tobias B. Haack, Bader Alhaddad, Farooq Ahmad, Majid Alfadhel, Raja Hussain Ali, Muhammad Umair, Thomas Meitinger, Muhammad Ansar, Abdullah, Wasim Ahmad
Publikováno v:
Clinical Genetics. 96:134-139
Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrati