Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1174 Records) |
Query Trace: Syndrome and LARGE[original query] |
---|
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. Pediatric nephrology (Berlin, Germany) 2023 9 . Dalia Pantel, Nils D Mertens, Ronen Schneider, Selina Hölzel, Jameela A Kari, Sherif El Desoky, Mohamed A Shalaby, Tze Y Lim, Simone Sanna-Cherchi, Shirlee Shril, Friedhelm Hildebran |
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome. HGG advances 2023 9 4 (4): 100232. Elizabeth E Blue, Janson J White, Michael K Dush, William W Gordon, Brent H Wyatt, Peter White, Colby T Marvin, Emmi Helle, Tiina Ojala, James R Priest, Mary M Jenkins, Lynn M Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C Brody, Kim L McBride, Vidu Garg, Gary M Shaw, Paul A Romitti, Wendy N Nembhard, Marilyn L Browne, Martha M Werler, Denise M Kay, , , Seema Mital, Jessica X Chong, Nanette M Nascone-Yoder, Michael J Bamsh |
Spectrum of variants in a large Chinese Gitelman syndrome cohort. Clinical genetics 2023 9 . Lijun Mou, Mengyue Tang, Lina Zhu, Wanbing Lin, Ying |
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation. American journal of medical genetics. Part A 2023 9 . Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Roberta Mattei, Marco Tartaglia, Fiammetta Catania, Stanislao Rizzo, Giuseppe Zampino, Annabella Saler |
Genetic influence to osteoarthritis versus other rheumatic diseases. Arthritis & rheumatology (Hoboken, N.J.) 2023 9 . Karin Magnusson, Aleksandra Turkiewicz, Martin Rydén, Martin Englu |
Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder. Genes 2023 8 14 (8): . Alex Chubick, Evan Wang, Cora Au, Wayne W Grody, Roel A Opho |
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. Brain communications 2023 8 5 (4): fcad208. Carolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Roula Ghaoui, Darshan Ghia, Robert D Henderson, Nerissa Jordan, Antony Winkel, Phillipa J Lamont, Miriam J Rodrigues, Richard H Roxburgh, Ben Weisburd, Nigel G Laing, Ira W Deveson, Mark R Davis, Gianina Ravenscro |
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome medicine 2023 8 15 (1): 62. Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H Driller, Bjørn P Pedersen, Karl P Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüll |
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nature communications 2023 12 14 (1): 8077. Sheng Wang, Belinda Wang, Vanessa Drury, Sam Drake, Nawei Sun, Hasan Alkhairo, Juan Arbelaez, Clif Duhn, , Vanessa H Bal, Kate Langley, Joanna Martin, Pieter J Hoekstra, Andrea Dietrich, Jinchuan Xing, Gary A Heiman, Jay A Tischfield, Thomas V Fernandez, Michael J Owen, Michael C O'Donovan, Anita Thapar, Matthew W State, A Jeremy Wills |
Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors. Human pathology 2023 12 . Eman Abdulfatah, Khaleel I Al-Obaidy, Dan Robinson, Yi-Mi Wu, Amer Heider, Muhammad T Idrees, Thomas M Ulbright, Lakshmi Pryia Kunju, Angela |
Low-Frequency PPM1D Gene Mutations Affect Treatment Response to CD19-Targeted CAR T-Cell Therapy in Large B-Cell Lymphoma. Current oncology (Toronto, Ont.) 2023 12 30 (12): 10463-10476. Katja Seipel, Michèle Frey, Henning Nilius, Dilara Akhoundova, Yara Banz, Ulrike Bacher, Thomas Pab |
The relationship between HLA-B*51 subtypes, clinical manifestations and severity of Behçet's syndrome: a large Italian cohort study. Rheumatology advances in practice 2023 11 7 (3): rkad087. Pietro Leccese, Maria Carmela Padula, Eustachio Vincenzo Santospirito, Rosa Colucci, Nancy Lascaro, Angela Anna Padula, Salvatore D'Ange |
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing. The Journal of allergy and clinical immunology 2023 11 . Anne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, Wolfgang Willenbacher, Ella Willenbacher, Sieghart Sopper, Mario Abinun, Maria Elena Maccari, Christoph König, Pauline Haegele, Sebastian Fuchs, Carla Castro, Patrick Kury, Olivier Pelle, Christian Klemann, Maximilian Heeg, Julian Thalhammer, Oliver Wegehaupt, Marco Fischer, Sigune Goldacker, Björn Schulte, Saskia Biskup, Philippe Chatelain, Volker Schuster, Klaus Warnatz, Bodo Grimbacher, Andrea Meinhardt, Dirk Holzinger, Prasad Thomas Oommen, Tanja Hinze, Holger Hebart, Karlheinz Seeger, Kai Lehmberg, Timothy Ronan Leahy, Alexander Claviez, Simon Vieth, Freimut H Schilling, Ilka Fuchs, Miriam Groß, Frederic Rieux-Laucat, Aude Magerus, Carsten Speckmann, Klaus Schwarz, Stephan Ehl, |
Investigating the role of the relaxin-3/RXFP3 system in neuropsychiatric disorders and metabolic phenotypes: A candidate gene approach. PloS one 2023 11 18 (11): e0294045. Win Lee Edwin Wong, Ryan Arathimos, Cathryn M Lewis, Allan H Young, Gavin S Da |
The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China. Frontiers in immunology 2023 10 14 1267933. Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei M |
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome. Journal of medical genetics 2023 10 . Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, , Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti Ghali, Angela F Brady, F Michael Pope, Fleur S van Dijk, Heather J Cordell, Timothy J Aitm |
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5. Genes 2023 10 14 (10): . Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Seong Joon Ahn, Hui Li, Kyu Hyung Park, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujina |
Genetic risk variants for childhood nephrotic syndrome and corticosteroid response. Frontiers in pediatrics 2023 10 11 1248733. Rachel K Cason, Eileen Chambers, Tiffany Tu, Megan Chryst-Stangl, Kinsie Huggins, Brandon M Lane, Alejandro Ochoa, Annette M Jackson, Rasheed A Gbadeges |
The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians. Frontiers in endocrinology 2023 10 14 1185956. Maha M Hammad, Mohamed Abu-Farha, Prashantha Hebbar, Emil Anoop, Betty Chandy, Motasem Melhem, Arshad Channanath, Fahd Al-Mulla, Thangavel Alphonse Thanaraj, Jehad Abubak |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
Evaluation the frequencies of HLA alleles in moderate and severe COVID-19 patients in Iran: A molecular HLA typing study. Heliyon 2024 4 10 (7): e28528. Farhad Abolnezhadian, Sara Iranparast, Mojtaba Shohan, Zahra Shokati Eshkiki, Mahtab Hamed, Maryam Seyedtabib, Roohangiz Nashibi, Mohammad-Ali Assarehzadegan, Seyed Ali Mard, Ali Akbar Shayesteh, Niloofar Neisi, Manoochehr Makvandi, Seyed Mohammad Alavi, Gholamreza Sharia |
RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls. Neurology. Genetics 2024 4 10 (3): e200149. Christina Votsi, Marios Tomazou, Paschalis Nicolaou, Marios C Pantzaris, Giorgos Pitsas, Archontia Adamou, Kleopas A Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoul |
Effects of MTHFR C677T polymorphism on homocysteine and vitamin D in women with polycystic ovary syndrome. Gene 2024 4 919 148504. Jinyan Zhao, Xianghong Li, Qing Ch |
The spectrum of growth hormone excess in Carney complex and genotype-phenotype correlations. The Journal of clinical endocrinology and metabolism 2024 4 . Christina Tatsi, Georgia Pitsava, Fabio R Faucz, Meg Keil, Constantine A Stratak |
Molecular Features of HHV8 Monoclonal Microlymphoma Associated with Kaposi Sarcoma and Multicentric Castleman Disease in an HIV-Negative Patient. International journal of molecular sciences 2024 4 25 (7): . Evelina Rogges, Sabrina Pelliccia, Camilla Savio, Gianluca Lopez, Irene Della Starza, Giacinto La Verde, Arianna Di Napo |
Peutz Jeghers syndrome accompanied with cervical gastric adenocarcinoma and extensive metastasis: a case report. International journal of clinical and experimental pathology 2024 1 16 (12): 386-392. Xia Wu, Dongni Liang, Ying |
Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis. Acta neuropathologica communications 2024 1 12 (1): 14. Haruhiko Takahashi, Manabu Natsumeda, Norikazu Hara, Akihide Koyama, Hiroshi Shimizu, Akinori Miyashita, Daiken Satake, Yoshihiro Mouri, Jun Tsukano, Keita Kawabe, Yoshihiro Tsukamoto, Masayasu Okada, Ryosuke Ogura, Akihiko Yuki, Hajime Umezu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Ois |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
Genetic Determinants of Selenium Availability, Selenium-Response, and Risk of Polycystic Ovary Syndrome. Biological trace element research 2024 1 . Priya Sharma, Preeti Khetarp |
A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population. Nutrients 2024 1 16 (1): . Chih-Yi Ho, Jia-In Lee, Shu-Pin Huang, Szu-Chia Chen, Jiun-Hung Ge |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 06, 2024
- Content source: