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Items: 1 to 20 of 50

1.
Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions
Caroline St. Peter, Waheeda A. Hossain, Scott Lovell, Syed K. Rafi, Merlin G. Butler
Int J Mol Sci. 2024 Mar; 25(5): 2838. Published online 2024 Feb 29. doi: 10.3390/ijms25052838
PMCID:
PMC10932183
AbstractArticlePDF–2.5M
2.
中国SPG11患者的临床与分子遗传学研究
杜 鹃
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28; 47(12): 1729–1732. Chinese. doi: 10.11817/j.issn.1672-7347.2022.190651
PMCID:
PMC10930275
AbstractArticlePDF–469K
3.
A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2
Whitney Whitford, Juliet Taylor, Ian Hayes, Warwick Smith, Russell G. Snell, Klaus Lehnert, Jessie C. Jacobsen
Mol Genet Genomic Med. 2024 Jan; 12(1): e2350. Published online 2023 Dec 26. doi: 10.1002/mgg3.2350
PMCID:
PMC10767577
AbstractArticlePDF–1.6M
4.
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi
Mol Genet Genomic Med. 2023 Dec; 11(12): e2256. Published online 2023 Aug 18. doi: 10.1002/mgg3.2256
PMCID:
PMC10724518
AbstractArticlePDF–2.2M
5.
Clinical heterogeneity of polish patients with KAT6B–related disorder
Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert
Mol Genet Genomic Med. 2023 Dec; 11(12): e2265. Published online 2023 Sep 1. doi: 10.1002/mgg3.2265
PMCID:
PMC10724496
AbstractArticlePDF–943K
6.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Annelise Y. Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie F. Smeland, Marc Planes, Kevin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, Martin A. Mensah, Henrike L. Sczakiel, Heidelis Tichy, Sarah Verheyen, Jasmin Blatterer, Elisabeth Schreiner, Jenny Thies, Christina Lam, Christine G. Spaeth, Loren Pena, Keri Ramsey, Vinodh Narayanan, Laurie H. Seaver, Diana Rodriguez, Alexandra Afenjar, Lydie Burglen, Edward B. Lee, Tsui-Fen Chou, Conrad C. Weihl, Marwan S. Shinawi
Am J Hum Genet. 2023 Nov 2; 110(11): 1959–1975. Published online 2023 Oct 25. doi: 10.1016/j.ajhg.2023.10.007
PMCID:
PMC10645565
AbstractArticlePDF–3.4M
7.
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape
Dezső David, João P. Freixo, Joana Fino, Inês Carvalho, Mariana Marques, Manuela Cardoso, Raul E. Piña-Aguilar, Cynthia C. Morton
Hum Genet. Author manuscript; available in PMC 2023 Sep 14.
Published in final edited form as: Hum Genet. 2020 Apr; 139(4): 531–543. Published online 2020 Feb 6. doi: 10.1007/s00439-020-02121-x
PMCID:
PMC10501484
AbstractArticlePDF–1.2M
8.
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children
Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Mol Genet Genomic Med. 2023 Sep; 11(9): e2192. Published online 2023 May 10. doi: 10.1002/mgg3.2192
PMCID:
PMC10496081
AbstractArticlePDF–952K
9.
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population
Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee
Mol Genet Genomic Med. 2023 Jun; 11(6): e2160. Published online 2023 Feb 27. doi: 10.1002/mgg3.2160
PMCID:
PMC10364928
AbstractArticlePDF–462K
10.
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer’s disease: a cross-sectional study
Anna H. Boerwinkle, Brian A. Gordon, Julie Wisch, Shaney Flores, Rachel L. Henson, Omar H. Butt, Nicole McKay, Charles D. Chen, Tammie L.S. Benzinger, Anne M. Fagan, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark Mapstone, William E. Klunk, Michael S. Rafii, Sid O’Bryant, Julie C. Price, Nicole Schupf, Charles M. Laymon, Sharon J. Krinsky-McHale, Florence Lai, H. Diana Rosas, Sigan L. Hartley, Shahid H. Zaman, Ira T. Lott, Wayne Silverman, Adam M. Brickman, Joseph H. Lee, Ricardo F. Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Nick C. Fox, Alison M. Goate, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Jae-Hong Lee, Johannes Levin, Hiroshi Mori, Richard J. Perrin, Stephen Salloway, Peter R. Schofield, Chengjie Xiong, Celeste M. Karch, Jason Hassenstab, Eric McDade, Randall J. Bateman, Beau M. Ances, Alzheimer’s Biomarker Consortium-Down Syndrome, the Dominantly Inherited Alzheimer Network
Lancet Neurol. Author manuscript; available in PMC 2024 Jan 1.
Published in final edited form as: Lancet Neurol. 2023 Jan; 22(1): 55–65. doi: 10.1016/S1474-4422(22)00408-2
PMCID:
PMC9979840
AbstractArticlePDF–1.4M
11.
Genetic genealogy uncovers a founder deletion mutation in the Cerebral Cavernous Malformations 2 gene
Carol J. Gallione, Matthew R. Detter, Adrienne Sheline, Henrietta M. Christmas, Cornelia Lee, Douglas A. Marchuk
Hum Genet. Author manuscript; available in PMC 2023 Feb 20.
Published in final edited form as: Hum Genet. 2022 Nov; 141(11): 1761–1769. Published online 2022 Apr 30. doi: 10.1007/s00439-022-02458-5
PMCID:
PMC9940658
AbstractArticlePDF–364K
12.
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants
Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease
Mol Genet Genomic Med. 2022 Nov; 10(11): e2067. Published online 2022 Sep 24. doi: 10.1002/mgg3.2067
PMCID:
PMC9651608
AbstractArticlePDF–1.8M
13.
Molecular diversity and phenotypic pleiotropy of ancient genomic regulatory loci derived from human endogenous retrovirus type H (HERVH) promoter LTR7 and HERVK promoter LTR5_Hs and their contemporary impacts on pathophysiology of Modern Humans
Gennadi V. Glinsky
Mol Genet Genomics. 2022; 297(6): 1711–1740. Published online 2022 Sep 19. doi: 10.1007/s00438-022-01954-7
PMCID:
PMC9483895
AbstractArticlePDF–7.2M
14.
Down syndrome-associated Alzheimer’s disease: a genetic form of dementia
Juan Fortea, Shahid H Zaman, Sigan Hartley, Michael S Rafii, Elizabeth Head, Maria Carmona-Iragui
Lancet Neurol. Author manuscript; available in PMC 2022 Nov 1.
Published in final edited form as: Lancet Neurol. 2021 Nov; 20(11): 930–942. doi: 10.1016/S1474-4422(21)00245-3
PMCID:
PMC9387748
AbstractArticlePDF–1.5M
15.
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia
Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, José Barros, José Brás, Jorge Sequeiros, Rita Guerreiro
Cells. 2022 Mar; 11(6): 981. Published online 2022 Mar 12. doi: 10.3390/cells11060981
PMCID:
PMC8946949
AbstractArticlePDF–1.1M
16.
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects
Xiangrong Cui, Xueqing Wu, Hongwei Wang, Sanyuan Zhang, Wei Wang, Xuan Jing
Mol Genet Genomic Med. 2022 Feb; 10(2): e1863. Published online 2022 Jan 16. doi: 10.1002/mgg3.1863
PMCID:
PMC8830809
AbstractArticlePDF–931K
17.
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14
Stephen F. Pastore, Tahir Muhammad, Ricardo Harripaul, Rebecca Lau, Muhammad Tariq Masood Khan, Muhammad Ismail Khan, Omar Islam, Changsoo Kang, Muhammad Ayub, Musharraf Jelani, John B. Vincent
Sci Rep. 2021; 11: 23113. Published online 2021 Nov 30. doi: 10.1038/s41598-021-02599-z
PMCID:
PMC8632963
AbstractArticlePDF–2.9M
18.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witters, Antonia Ribes, Blai Morales-Romero, Agustí Rodríguez-Palmero, Diana Ballhausen, Pascale de Lonlay, Rita Barone, Mirian C.H. Janssen, Jaak Jaeken, Hudson H. Freeze, Gert Matthijs, Eva Morava, Dirk J. Lefeber
Am J Hum Genet. 2021 Nov 4; 108(11): 2130–2144. Published online 2021 Oct 14. doi: 10.1016/j.ajhg.2021.09.012
PMCID:
PMC8595932
AbstractArticlePDF–2.5M
19.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N. Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D. Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M. Nouel-Saied, Diana M. Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E. Posey, Suzanne M. Leal, Isabelle Schrauwen
Hum Genet. 2021; 140(7): 1011–1029. Published online 2021 Mar 12. doi: 10.1007/s00439-021-02268-1
PMCID:
PMC8197721
AbstractArticlePDF–697K
20.
A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome
Yu Tanaka, Naoya Morisada, Tomohiro Suzuki, Yoshitaka Ohashi, Ming Juan Ye, Kandai Nozu, Satoru Tsuruta, Kazumoto Iijima
CEN Case Rep. 2021 May; 10(2): 184–188. Published online 2020 Oct 13. doi: 10.1007/s13730-020-00543-0
PMCID:
PMC8019452
AbstractArticlePDF–1.1M

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