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Items: 1 to 20 of 500

1.
Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9
Ortal Barel, Stavit A. Shalev, Rivka Ofir, Asi Cohen, Joel Zlotogora, Zamir Shorer, Galia Mazor, Gal Finer, Shareef Khateeb, Noam Zilberberg, Ohad S. Birk
Am J Hum Genet. 2008 Aug 8; 83(2): 193–199. Published online 2008 Aug 1. doi: 10.1016/j.ajhg.2008.07.010
PMCID:
PMC2495061
AbstractArticlePDF–858K
2.
46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study
Anna A. Kashevarova, Tatyana V. Nikitina, Larisa I. Mikhailik, Elena O. Belyaeva, Stanislav A. Vasilyev, Mariya E. Lopatkina, Dmitry A. Fedotov, Elizaveta A. Fonova, Aleksei A. Zarubin, Aleksei A. Sivtsev, Nikolay A. Skryabin, Lyudmila P. Nazarenko, Igor N. Lebedev
Genes (Basel) 2020 Dec; 11(12): 1473. Published online 2020 Dec 9. doi: 10.3390/genes11121473
PMCID:
PMC7763634
AbstractArticlePDF–2.9M
3.
An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas
Michael A Ramirez-Arenalde, Wilmarie J Bruckman-Blanco, Abymael Frontanes-Heredia, Sherry L Santiago-Castro, Wilfredo De Jesús-Rojas
Cureus. 2021 Jun; 13(6): e15862. Published online 2021 Jun 23. doi: 10.7759/cureus.15862
PMCID:
PMC8301725
AbstractArticlePDF–802K
4.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Jr, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee
Genome Med. 2022; 14: 62. Published online 2022 Jun 13. doi: 10.1186/s13073-022-01064-4
PMCID:
PMC9195326
AbstractArticlePDF–7.5M
5.
Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals
Giulia Cencelli, Laura Pacini, Anastasia De Luca, Ilenia Messia, Antonietta Gentile, Yunhee Kang, Veronica Nobile, Elisabetta Tabolacci, Peng Jin, Maria Giulia Farace, Claudia Bagni
Cells. 2023 Mar; 12(5): 758. Published online 2023 Feb 27. doi: 10.3390/cells12050758
PMCID:
PMC10000963
AbstractArticlePDF–3.4M
6.
Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X
María Teresa Alejandra González-Rodríguez, Sinhue Alejandro Brukman-Jiménez, Idalid Cuero-Quezada, Jorge Román Corona-Rivera, Alfredo Corona-Rivera, Graciela Serafín-Saucedo, Liuba M. Aguirre-Salas, Lucina Bobadilla-Morales
Genes (Basel) 2023 Feb; 14(2): 253. Published online 2023 Jan 18. doi: 10.3390/genes14020253
PMCID:
PMC9957150
AbstractArticlePDF–3.4M
7.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Proc Natl Acad Sci U S A. 2023 Feb 28; 120(9): e2102569120. Published online 2023 Feb 21. doi: 10.1073/pnas.2102569120
PMCID:
PMC9992838
AbstractArticlePDF–3.2M
8.
A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome
Devan Straub, Lauren M. Schmitt, Anna E. Boggs, Paul S. Horn, Kelli C. Dominick, Christina Gross, Craig A. Erickson
Sci Rep. 2023; 13: 3808. Published online 2023 Mar 7. doi: 10.1038/s41598-023-29786-4
PMCID:
PMC9992378
AbstractArticlePDF–1.4M
9.
Copy Number Variations and Schizophrenia
Kamila Szecówka, Błażej Misiak, Izabela Łaczmańska, Dorota Frydecka, Ahmed A. Moustafa
Mol Neurobiol. 2023; 60(4): 1854–1864. Published online 2022 Dec 29. doi: 10.1007/s12035-022-03185-8
PMCID:
PMC9984510
AbstractArticlePDF–1.6M
10.
Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient’s perspective
Kris Van de Woestyne, Ans Vandensande, Kristof Vansteelandt, Bea Maes, Elfi Vergaelen, Ann Swillen
Eur Child Adolesc Psychiatry. Author manuscript; available in PMC 2023 Mar 2.
Published in final edited form as: Eur Child Adolesc Psychiatry. 2022 Dec; 31(12): 1885–1894. Published online 2021 Jun 11. doi: 10.1007/s00787-021-01822-6
PMCID:
PMC9979632
AbstractArticlePDF–517K
11.
Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings
ELIZABETH I PIERPONT, ERICA TWOROG-DUBE, AMY E ROBERTS
Dev Med Child Neurol. Author manuscript; available in PMC 2023 Mar 2.
Published in final edited form as: Dev Med Child Neurol. 2015 Apr; 57(4): 385–392. Published online 2014 Nov 3. doi: 10.1111/dmcn.12621
PMCID:
PMC9979240
AbstractArticlePDF–157K
12.
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen
Brain. 2023 Mar; 146(3): 912–922. Published online 2022 Dec 21. doi: 10.1093/brain/awac488
PMCID:
PMC9976957
AbstractArticlePDF–505K
13.
Longitudinal investigation of cognition, social competence, and anxiety in children and adolescents with Turner syndrome
Tracy L. Jordan, Megan Klabunde, Tamar Green, David S. Hong, Judith L. Ross, Booil Jo, Allan L. Reiss
Horm Behav. Author manuscript; available in PMC 2024 Mar 1.
Published in final edited form as: Horm Behav. 2023 Mar; 149: 105300. Published online 2023 Jan 12. doi: 10.1016/j.yhbeh.2022.105300
PMCID:
PMC9974892
AbstractArticlePDF–2.1M
14.
Novel Variants of SOX4 in Patients with Intellectual Disability
Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl, Miriam Bertrand, Tobias B. Haack, Corinna Grasemann, Eva Manka, Christel Depienne, Frank J. Kaiser
Int J Mol Sci. 2023 Feb; 24(4): 3519. Published online 2023 Feb 9. doi: 10.3390/ijms24043519
PMCID:
PMC9964377
AbstractArticlePDF–2.4M
15.
Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu
Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465
PMCID:
PMC9957522
AbstractArticlePDF–2.1M
16.
Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome
Kathryn K. Chadman, Tatyana Adayev, Aishwarya Udayan, Rida Ahmed, Chun-Ling Dai, Jeffrey H. Goodman, Harry Meeker, Natalia Dolzhanskaya, Milen Velinov
Genes (Basel) 2023 Feb; 14(2): 505. Published online 2023 Feb 16. doi: 10.3390/genes14020505
PMCID:
PMC9957373
AbstractArticlePDF–2.4M
17.
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane
Genes (Basel) 2023 Feb; 14(2): 497. Published online 2023 Feb 15. doi: 10.3390/genes14020497
PMCID:
PMC9957273
AbstractArticlePDF–1.1M
18.
Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome
Angham Abdulrhman Abdulkareem, Bader H. Shirah, Muhammad Imran Naseer
Genes (Basel) 2023 Feb; 14(2): 354. Published online 2023 Jan 30. doi: 10.3390/genes14020354
PMCID:
PMC9957204
AbstractArticlePDF–675K
19.
Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses
Vesna Marija van Midden, Lisa Kinsley, Avram Fraint, Dimitri Krainc, Niccolò E. Mencacci
Clin Genet. 2023 Jan; 103(1): 103–108. Published online 2022 Sep 15. doi: 10.1111/cge.14226
PMCID:
PMC10087234
AbstractArticlePDF–1.9M
20.
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
Lauren Brady, Mark Ballantyne, John Duck, Thomas Fisker, Ryan Kleefman, Chumei Li, Landry Nfonsam, Lee‐Anne Schultz, Mark Tarnopolsky, Elizabeth McCready
Mol Genet Genomic Med. 2023 Mar; 11(3): e2116. Published online 2022 Dec 3. doi: 10.1002/mgg3.2116
PMCID:
PMC10009906
AbstractArticlePDF–2.7M

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