PMC Articles for MedGen (Select 358083) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 42

<< First< Prev

Page of 3

Select item 77844961.

NAA10 variant in 38-week-gestation male patient: a case study

Antara Afrin, Jeremy W. Prokop, Adam Underwood, Katie L. Uhl, Elizabeth A. VanSickle, Roja Baruwal, Morgan Wajda, Surender Rajasekaran, Caleb Bupp

Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005868. doi: 10.1101/mcs.a005868

PMCID:: PMC7784496

Article PDF–6.0M

Select item 66720302.

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf–Hirschhorn syndrome

Elizabeth S. Barrie, Maria P. Alfaro, Ruthann B. Pfau, Melanie J. Goff, Kim L. McBride, Kandamurugu Manickam, Erik J. Zmuda

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004044. doi: 10.1101/mcs.a004044

PMCID:: PMC6672030

Article PDF–531K

Select item 59831733.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C. Jones, David P. Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002469. doi: 10.1101/mcs.a002469

PMCID:: PMC5983173

Article PDF–1.1M

Select item 51110074.

SCN8A mutation in a child presenting with seizures and developmental delays

Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H. Meisler, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001073. doi: 10.1101/mcs.a001073

PMCID:: PMC5111007

Article PDF–1.6M

Select item 37879155.

A Mutation in TTF1/NKX2.1 Is Associated With Familial Neuroendocrine Cell Hyperplasia of Infancy

Lisa R. Young, Gail H. Deutsch, Ronald E. Bokulic, Alan S. Brody, Lawrence M. Nogee

Chest. 2013 Oct; 144(4): 1199–1206. Published online 2013 Jun 20. doi: 10.1378/chest.13-0811

PMCID:: PMC3787915

Article PDF–1.4M

Select item 32799936.

Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1

Edwige-Ludiwyne Hubert, Raphaël Teissier, Fábio L. Fernandes-Rosa, Michel Fay, Marie-Edith Rafestin-Oblin, Xavier Jeunemaitre, Chantal Metz, Brigitte Escoubet, Maria-Christina Zennaro

J Am Soc Nephrol. 2011 Nov; 22(11): 1997–2003. doi: 10.1681/ASN.2011030245

PMCID:: PMC3279993

Article

Select item 27868887.

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

Robert H. Henderson, Kathleen A. Williamson, Joanna S. Kennedy, Andrew R. Webster, Graham E. Holder, Anthony G. Robson, David R. FitzPatrick, Veronica van Heyningen, Anthony T. Moore

Mol Vis. 2009; 15: 2442–2447. Published online 2009 Nov 21.

PMCID:: PMC2786888

Article PDF–1.6M

Select item 25980498.

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Björn Menten, Karen Buysse, Farah Zahir, Jan Hellemans, Sara J Hamilton, Teresa Costa, Carrie Fagerstrom, George Anadiotis, Daniel Kingsbury, Barbara C McGillivray, Marco A Marra, Jan M Friedman, Frank Speleman, Geert Mortier

J Med Genet. 2007 Apr; 44(4): 264–268. Published online 2007 Jan 12. doi: 10.1136/jmg.2006.047860

PMCID:: PMC2598049

Article PDF–579K

Select item 10503539.

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

M Y Yip, M Selikowitz, N Don, A Kovacic, S Purvis-Smith, P R Lam-Po-Tang

J Med Genet. 1987 Nov; 24(11): 709–712. doi: 10.1136/jmg.24.11.709

PMCID:: PMC1050353

Summary Page Browse PDF–794K

Select item 1059297510.

Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome

Rachel B. Gilmore, Yaling Liu, Christopher E. Stoddard, Michael S. Chung, Gordon G. Carmichael, Justin Cotney

Version 1. bioRxiv. Preprint. 2023 Oct 5. doi: 10.1101/2023.10.03.560773

PMCID:: PMC10592975

Article PDF–11M

Select item 938700311.

Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review

Sandra Trapani, Barbara Bortone, Martina Bianconi, Chiara Rubino, Iacopo Sardi, Paolo Lionetti, Giuseppe Indolfi

Ital J Pediatr. 2022; 48: 147. Published online 2022 Aug 17. doi: 10.1186/s13052-022-01316-4

PMCID:: PMC9387003

Article PDF–1.1M

Select item 895891412.

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

Jesse M. Hunter, Lauren J. Massingham, Kandamurugu Manickam, Dennis Bartholomew, Rachel K. Williamson, Jennifer L. Schwab, Mohammad Marhabaie, Amy Siemon, Emily de los Reyes, Shalini C. Reshmi, Catherine E. Cottrell, Richard K. Wilson, Daniel C. Koboldt

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006180. doi: 10.1101/mcs.a006180

PMCID:: PMC8958914

Article PDF–3.5M

Select item 875141713.

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome

Kayla J. Muirhead, Amanda R. Clause, Zinayida Schlachetzki, Holly Dubbs, Denise L. Perry, R. Tanner Hagelstrom, Ryan J. Taft, Adeline Vanderver

Cold Spring Harb Mol Case Stud. 2021 Dec; 7(6): a006143. doi: 10.1101/mcs.a006143

PMCID:: PMC8751417

Article PDF–4.9M

Select item 856084014.

Current Diagnosis and Management of Abetalipoproteinemia

Manabu Takahashi, Hiroaki Okazaki, Ken Ohashi, Masatsune Ogura, Shun Ishibashi, Sachiko Okazaki, Satoshi Hirayama, Mika Hori, Kota Matsuki, Shinji Yokoyama, Mariko Harada-Shiba

J Atheroscler Thromb. 2021 Oct 1; 28(10): 1009–1019. Published online 2021 May 16. doi: 10.5551/jat.RV17056

PMCID:: PMC8560840

Article PDF–464K

Select item 751770115.

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency

Lan Wang, Dan Zhang, Cheng Fan, Xiaoying Zhou, Zhifeng Liu, Bixia Zheng, Li Zhu, Yu Jin

Front Genet. 2020; 11: 538778. Published online 2020 Sep 11. doi: 10.3389/fgene.2020.538778

PMCID:: PMC7517701

Article PDF–1.3M

Select item 730435316.

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

Cecelia R. Miller, Kristy Lee, Ruthann B. Pfau, Shalini C. Reshmi, Donald J. Corsmeier, Sayaka Hashimoto, Ashita Dave-Wala, Vijayakumar Jayaraman, Daniel Koboldt, Theodora Matthews, Danielle Mouhlas, Maggie Stein, Aimee McKinney, Tom Grossman, Benjamin J. Kelly, Peter White, Vincent Magrini, Richard K. Wilson, Elaine R. Mardis, Catherine E. Cottrell

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005231. doi: 10.1101/mcs.a005231