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Items: 19

1.
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole D. Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel V. DiGiacomo, Kara M. Masse, Sarah M. Kadzielski, Claire A. Zar-Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen A. Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, MGH Myhre Syndrome Study Group
Am J Med Genet A. Author manuscript; available in PMC 2024 Nov 25.
Published in final edited form as: Am J Med Genet A. 2024 Oct; 194(10): e63638. Published online 2024 May 23. doi: 10.1002/ajmg.a.63638
PMCID:
PMC11586855
ArticlePDF–1.4M
2.
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Clara Velmans, Anne H O’Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian Erger
J Med Genet. Author manuscript; available in PMC 2023 Jun 9.
Published in final edited form as: J Med Genet. 2022 Jul; 59(7): 697–705. Published online 2021 Jul 28. doi: 10.1136/jmedgenet-2020-107470
PMCID:
PMC10256139
ArticlePDF–563K
3.
CTCF variant begets to short stature by down-regulation of IGF1
Hong Chen, Weiyu Li, Suping Zhang, Yunteng Sun, Yiping Shen, Ruimin Chen
J Mol Endocrinol. 2023 May 1; 70(4): e220193. Prepublished online 2023 Feb 27. Published online 2023 Apr 6. doi: 10.1530/JME-22-0193
PMCID:
PMC10160550
ArticlePDF–2.1M
4.
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
Lottie D. Morison, Ruth O. Braden, David J. Amor, Amanda Brignell, Bregje W. M. van Bon, Angela T. Morgan
Eur J Hum Genet. 2022 Jul; 30(7): 800–811. Published online 2022 Apr 18. doi: 10.1038/s41431-022-01079-w
PMCID:
PMC9259653
ArticlePDF–1.2M
5.
Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe
Elena Cardenal‐Muñoz, Stéphane Auvin, Vicente Villanueva, J. Helen Cross, Sameer M. Zuberi, Lieven Lagae, José Ángel Aibar
Epilepsia Open. 2022 Mar; 7(1): 11–26. Published online 2021 Dec 19. doi: 10.1002/epi4.12569
PMCID:
PMC8886070
ArticlePDF–1.3M
6.
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms
M. Pilar Trelles, Tess Levy, Bonnie Lerman, Paige Siper, Reymundo Lozano, Danielle Halpern, Hannah Walker, Jessica Zweifach, Yitzchak Frank, Jennifer Foss-Feig, Alexander Kolevzon, Joseph Buxbaum
Mol Autism. 2021; 12: 61. Published online 2021 Sep 29. doi: 10.1186/s13229-021-00469-z
PMCID:
PMC8482569
ArticlePDF–3.9M
7.
CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature
Qingyun Kang, Liming Yang, Hongmei Liao, Liwen Wu, Bo Chen, Sai Yang, Xiaojun Kuang, Haiyang Yang, Caishi Liao
Medicine (Baltimore) 2021 Jun 11; 100(23): e26093. Published online 2021 Jun 11. doi: 10.1097/MD.0000000000026093
PMCID:
PMC8202604
ArticlePDF–575K
8.
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Karen G. C. B. Bindels‐de Heus, Sabine E. Mous, Maartje ten Hooven‐Radstaake, Bianca M. van Iperen‐Kolk, Cindy Navis, André B. Rietman, Leontine W. ten Hoopen, Alice S. Brooks, ENCORE Expertise Center for AS, Ype Elgersma, Henriëtte A. Moll, Marie‐Claire Y. de Wit
Am J Med Genet A. 2020 Jan; 182(1): 53–63. Published online 2019 Nov 15. doi: 10.1002/ajmg.a.61382
PMCID:
PMC6916553
ArticlePDF–1.7M
9.
A novel mutation in ACTG1 can cause either isolated hearing loss or Baraitser-Winter syndrome
Andrew Kemerley, Christina M Sloan-Heggen, Wanda L Pfeifer, Richard JH Smith, Arlene V Drack
Ophthalmic Genet. Author manuscript; available in PMC 2018 Mar 1.
Published in final edited form as: Ophthalmic Genet. 2017 Mar-Apr; 38(2): 152–156. Published online 2016 Apr 20. doi: 10.3109/13816810.2016.1164196
PMCID:
PMC5722223
ArticlePDF–1.3M
10.
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal dominant Alzheimer's disease
María Carmona-Iragui, Mircea Balasa, Bessy Benejam, Daniel Alcolea, Susana Fernández, Laura Videla, Isabel Sala, María Belén Sánchez-Saudinos, Estrella Morenas-Rodriguez, Roser Ribosa-Nogué, Ignacio Illán-Gala, Sofía Gonzalez-Ortiz, Jordi Clarimón, Frederick Schmitt, David K Powell, Beatriz Bosch, Albert Lladó, Michael Rafii, Elizabeth Head, José Luis Molinuevo, Rafael Blesa, Sebastián Videla, Alberto Lleó, Raquel Sánchez-Valle, Juan Fortea
Alzheimers Dement. Author manuscript; available in PMC 2018 Nov 1.
Published in final edited form as: Alzheimers Dement. 2017 Nov; 13(11): 1251–1260. Published online 2017 Apr 29. doi: 10.1016/j.jalz.2017.03.007
PMCID:
PMC5660938
ArticlePDF–576K
11.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
Colleen M. Carlston, Anne H. O’Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Exome Aggregation Consortium, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao
Hum Mutat. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Hum Mutat. 2017 May; 38(5): 517–523. Published online 2017 Mar 21. doi: 10.1002/humu.23203
PMCID:
PMC5487276
ArticlePDF–216K
12.
GRIN2A: An aptly named gene for speech dysfunction
Samantha J. Turner, Angela K. Mayes, Andrea Verhoeven, Simone A. Mandelstam, Angela T. Morgan, Ingrid E. Scheffer
Neurology. 2015 Feb 10; 84(6): 586–593. doi: 10.1212/WNL.0000000000001228
PMCID:
PMC4335991
ArticlePDF–312K
13.
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiron
Orphanet J Rare Dis. 2013; 8: 176. Published online 2013 Nov 13. doi: 10.1186/1750-1172-8-176
PMCID:
PMC4225757
ArticlePDF–562K
14.
Acyl-CoA synthetase 3 promotes lipid droplet biogenesis in ER microdomains
Adam Kassan, Albert Herms, Andrea Fernández-Vidal, Marta Bosch, Nicole L. Schieber, Babu J.N. Reddy, Alba Fajardo, Mariona Gelabert-Baldrich, Francesc Tebar, Carlos Enrich, Steven P. Gross, Robert G. Parton, Albert Pol
J Cell Biol. 2013 Dec 23; 203(6): 985–1001. doi: 10.1083/jcb.201305142
PMCID:
PMC3871434
ArticlePDF–5.5M
15.
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1
Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad
PLoS Genet. 2013 Mar; 9(3): e1003349. Published online 2013 Mar 21. doi: 10.1371/journal.pgen.1003349
PMCID:
PMC3605256
ArticlePDF–968K
16.
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation
Grazia Taddeucci, Alice Bonuccelli, Ilaria Mantellassi, Alessandro Orsini, Enrico Tarantino
Ital J Pediatr. 2010; 36: 12. Published online 2010 Feb 2. doi: 10.1186/1824-7288-36-12
PMCID:
PMC2827426
ArticlePDF–843K
17.
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
A Smith, C Wiles, E Haan, J McGill, G Wallace, J Dixon, R Selby, A Colley, R Marks, R J Trent
J Med Genet. 1996 Feb; 33(2): 107–112. doi: 10.1136/jmg.33.2.107
PMCID:
PMC1051834
ArticlePDF–1.1M
18.
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
V des Portes, J M Pinard, D Smadja, J Motte, O Boespflüg-Tanguy, M L Moutard, I Desguerre, P Billuart, A Carrie, T Bienvenu, M C Vinet, L Bachner, C Beldjord, O Dulac, A Kahn, G Ponsot, J Chelly
J Med Genet. 1997 Mar; 34(3): 177–183. doi: 10.1136/jmg.34.3.177
PMCID:
PMC1050888
ArticlePDF–1.5M
19.
Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia.
G N Wilson, W J Oliver
J Med Genet. 1988 Mar; 25(3): 157–163. doi: 10.1136/jmg.25.3.157
PMCID:
PMC1015479
ArticlePDF–1.3M

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