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Items: 1 to 20 of 500

1.
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W Kuss, Hossein Najmabadi, Andreas Tzschach
Eur J Hum Genet. 2011 Jan; 19(1): 115–117. Published online 2010 Aug 11. doi: 10.1038/ejhg.2010.132
PMCID:
PMC3039499
ArticlePDF–230K
2.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, Jr., M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
J Neurodev Disord. 2024; 16: 25. Published online 2024 May 10. doi: 10.1186/s11689-024-09541-0
PMCID:
PMC11084001
ArticlePDF–1.1M
3.
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
Eli Matsell, Jens Peter Andersen, Robert S. Molday
Dis Model Mech. 2024 Jun 1; 17(6): dmm050546. Published online 2024 Apr 24. doi: 10.1242/dmm.050546
PMCID:
PMC11073571
Article
4.
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature
Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu
BMC Pediatr. 2024; 24: 309. Published online 2024 May 6. doi: 10.1186/s12887-024-04779-y
PMCID:
PMC11071329
ArticlePDF–1.6M
5.
Quantitative measures of motor development in Angelman syndrome
Jessica Duis, Austin Skinner, Robert Carson, Arnaud Gouelle, Melanie Annoussamy, Jill L. Silverman, Susan Apkon, Laurent Servais, James Carollo
Am J Med Genet A. Author manuscript; available in PMC 2024 May 4.
Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1711–1721. Published online 2023 Apr 5. doi: 10.1002/ajmg.a.63192
PMCID:
PMC11068498
ArticlePDF–864K
6.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010
PMCID:
PMC11068106
ArticlePDF–1.0M
7.
Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome
Eun Young Joo, Myung Ji Yoo, Su Jin Kim, Woori Jang, Ji-Eun Lee
Front Endocrinol (Lausanne) 2024; 15: 1352552. Published online 2024 Apr 18. doi: 10.3389/fendo.2024.1352552
PMCID:
PMC11063372
ArticlePDF–1.7M
8.
Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome
Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong, Jing Zhang
BMC Med Genomics. 2024; 17: 116. Published online 2024 Apr 29. doi: 10.1186/s12920-024-01889-5
PMCID:
PMC11059674
ArticlePDF–3.0M
9.
Sleep problems in Fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort
Dejan B. Budimirovic, Dragana D. Protic, Carol M. Delahunty, Howard F. Andrews, Tse-Hwei Choo, Qing Xu, Elizabeth Berry-Kravis, Walter E. Kaufmann
Am J Med Genet A. Author manuscript; available in PMC 2024 Apr 29.
Published in final edited form as: Am J Med Genet A. 2022 Apr; 188(4): 1029–1039. Published online 2021 Dec 10. doi: 10.1002/ajmg.a.62601
PMCID:
PMC11057226
ArticlePDF–220K
10.
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente
Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9
PMCID:
PMC11055696
ArticlePDF–7.2M
11.
A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report
Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, Maria Szczepańska
Int J Mol Sci. 2024 Apr; 25(8): 4486. Published online 2024 Apr 19. doi: 10.3390/ijms25084486
PMCID:
PMC11050435
ArticlePDF–1.2M
12.
Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review
Ji Yoon Han, Joonhong Park
Genes (Basel) 2024 Apr; 15(4): 445. Published online 2024 Mar 31. doi: 10.3390/genes15040445
PMCID:
PMC11050143
ArticlePDF–1.2M
13.
Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome
Simon Smerconish, James Eric Schmitt
Genes (Basel) 2024 Apr; 15(4): 440. Published online 2024 Mar 30. doi: 10.3390/genes15040440
PMCID:
PMC11050060
ArticlePDF–355K
14.
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Genes (Basel) 2024 Apr; 15(4): 430. Published online 2024 Mar 29. doi: 10.3390/genes15040430
PMCID:
PMC11049644
ArticlePDF–732K
15.
An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi, Silvia Romano, Alice Bonuccelli
Genes (Basel) 2024 Apr; 15(4): 436. Published online 2024 Mar 29. doi: 10.3390/genes15040436
PMCID:
PMC11049481
ArticlePDF–1.0M
16.
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder
Ineke Cordova, Alyssa Blesson, Juliann M. Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra
Genes (Basel) 2024 Apr; 15(4): 423. Published online 2024 Mar 28. doi: 10.3390/genes15040423
PMCID:
PMC11049257
ArticlePDF–210K
17.
Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back
Mohamed S. Taha, Mohammad Reza Ahmadian
Biomolecules. 2024 Apr; 14(4): 399. Published online 2024 Mar 26. doi: 10.3390/biom14040399
PMCID:
PMC11047961
ArticlePDF–1.2M
18.
PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association
Marcel Proske, Robert Janowski, Sabrina Bacher, Hyun-Seo Kang, Thomas Monecke, Tony Koehler, Saskia Hutten, Jana Tretter, Anna Crois, Lena Molitor, Alejandro Varela-Rial, Roberto Fino, Elisa Donati, Gianni De Fabritiis, Dorothee Dormann, Michael Sattler, Dierk Niessing
eLife. 2024; 13: RP93561. Published online 2024 Apr 24. doi: 10.7554/eLife.93561
PMCID:
PMC11042805
ArticlePDF–5.8M
19.
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment
Khurram Liaqat, Thashi Bharadwaj, Khadim Shah, Abdul Nasir, Anushree Acharya, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Clin Genet. Author manuscript; available in PMC 2024 Apr 24.
Published in final edited form as: Clin Genet. 2023 Oct; 104(4): 499–501. Published online 2023 Jun 13. doi: 10.1111/cge.14390
PMCID:
PMC11041622
ArticlePDF–619K
20.
From phenotype to mechanism: Prenatal spectrum of NKAP mutation‐related disorder and its pathogenesis inducing congenital heart disease
Xiayuan Xu, Chengcheng Gao, Fenglei Ye, Aohui Peng, Jianbo Xu, Keqin Jin, Jun Zhang, Yun Ye, Yanfen Yang, Xuan Zhang, Shuangshuang Shen, Fan Jin
J Cell Mol Med. 2024 Apr; 28(8): e18305. Published online 2024 Apr 22. doi: 10.1111/jcmm.18305
PMCID:
PMC11034370
ArticlePDF–7.9M

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