PMC Articles for MedGen (Select 1622196) - PMC

Select item 115868551.

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

Article PDF–1.4M

Select item 109302752.

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

Article PDF–469K

Select item 109153663.

Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion

Haitian Nan, Min Chu, Jing Zhang, Deming Jiang, Yihao Wang, Liyong Wu

Mol Genet Genomic Med. 2024 Mar; 12(3): e2398. Published online 2024 Mar 5. doi: 10.1002/mgg3.2398

PMCID:: PMC10915366

Article PDF–3.1M

Select item 63890554.

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li, Jing Liu

BMC Med Genet. 2018; 19: 31. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0545-5

PMCID:: PMC6389055

Article PDF–880K

Select item 44641205.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy JL de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard, Miikka Vikkula

Orphanet J Rare Dis. 2015; 10: 52. Published online 2015 May 2. doi: 10.1186/s13023-015-0271-4

PMCID:: PMC4464120

Article PDF–1.6M

Select item 41337436.

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Nneamaka B. Agochukwu, Benjamin D. Solomon, Andrea L. Gropman, Maximilian Muenke

Pediatr Neurol. Author manuscript; available in PMC 2014 Aug 15.

Published in final edited form as: Pediatr Neurol. 2012 Nov; 47(5): 355–361. doi: 10.1016/j.pediatrneurol.2012.07.004

PMCID:: PMC4133743

Article PDF–50K

Select item 19147337.

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

E. P. Henske, B. W. Scheithauer, M. P. Short, R. Wollmann, J. Nahmias, N. Hornigold, M. van Slegtenhorst, C. T. Welsh, D. J. Kwiatkowski

Am J Hum Genet. 1996 Aug; 59(2): 400–406.

PMCID:: PMC1914733

Article PDF–1.2M

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