PMC Articles for MedGen (Select 163901) - PMC

Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx, Iga Abramowicz, Emily Outwin, Luis Rohena, Claire Faulkner, Gary M. Leong, Ruth A. Newbury-Ecob, Rachel C. Challis, Katrin Õunap, Jacques Jaeken, Eve Seuntjens, Koen Devriendt, Ezra Burstein, Karen J. Low, Mark O’Driscoll

Am J Hum Genet. 2019 May 2; 104(5): 957–967. Published online 2019 Apr 18. doi: 10.1016/j.ajhg.2019.03.006

PMCID:: PMC6506757

Abstract Article PDF–1.5M

Select item 68783365.

Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report

Ahmad Kautsar, Jan M. Wit, Aman Pulungan

J Clin Res Pediatr Endocrinol. 2019 Dec; 11(4): 426–431. Published online 2019 Nov 22. doi: 10.4274/jcrpe.galenos.2019.2018.0305

PMCID:: PMC6878336

Abstract Article PDF–1.5M

Select item 62332626.

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

BMC Med Genet. 2018; 19: 196. Published online 2018 Nov 12. doi: 10.1186/s12881-018-0709-3

PMCID:: PMC6233262

Abstract Article PDF–3.1M

Select item 69423767.

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

Sofia Dória, Daniela Alves, Maria João Pinho, Joel Pinto, Miguel Leão

BMC Med Genomics. 2020; 13: 2. Published online 2020 Jan 3. doi: 10.1186/s12920-019-0653-x

PMCID:: PMC6942376

Abstract Article PDF–1.2M

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

Abstract Article PDF–579K

Select item 74422789.

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations

Patrick C Hanley, Harsh S Kanwar, Corine Martineau, Michael A Levine

J Clin Endocrinol Metab. 2020 Oct; 105(10): 3190–3202. Published online 2020 Jul 28. doi: 10.1210/clinem/dgaa491

PMCID:: PMC7442278

Abstract Article

Select item 541316210.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F. A. Funari, Karen E. Heath, Alexander A. L. Jorge, Tracey Kurtzman, Stephen LaFranchi, Seema Lalani, Jan Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, Catherine Nowak, Micah Olson, Jadranka Popovic, Štěpánka Průhová, Lenka Elblova, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva-Lena Stattin, Jonathan Swartz, Ariadna González del Angel, Sinhué Diaz Cuéllar, Hidekazu Hosono, Pedro A. Sanchez-Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber

J Clin Endocrinol Metab. 2017 Feb 1; 102(2): 460–469. Published online 2016 Nov 21. doi: 10.1210/jc.2016-3313

PMCID:: PMC5413162

Abstract Article

Select item 1124625211.

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)

Sebastian Gippert, Matias Wagner, Theresa Brunet, Riccardo Berruti, Melanie Brugger, Eva M. C. Schwaibold, Tobias B. Haack, Georg F. Hoffmann, Markus Bettendorf, Daniela Choukair

Endocrine. 2024; 85(1): 444–453. Published online 2023 Nov 8. doi: 10.1007/s12020-023-03581-7

PMCID:: PMC11246252

Abstract Article PDF–953K

Select item 264920912.

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation

Toshiyuki Araki, Gordon Chan, Susan Newbigging, Lily Morikawa, Roderick T. Bronson, Benjamin G. Neel

Proc Natl Acad Sci U S A. 2009 Mar 24; 106(12): 4736–4741. Published online 2009 Feb 27. doi: 10.1073/pnas.0810053106

PMCID:: PMC2649209

Abstract Article PDF–1.4M

Select item 141373513.

Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling

Per Uhlén, Peter M. Burch, Christina Ivins Zito, Manuel Estrada, Barbara E. Ehrlich, Anton M. Bennett

Proc Natl Acad Sci U S A. 2006 Feb 14; 103(7): 2160–2165. Published online 2006 Feb 3. doi: 10.1073/pnas.0510876103

PMCID:: PMC1413735

Abstract Article PDF–458K

Select item 457400214.

Meier-Gorlin syndrome

Sonja A. de Munnik, Elisabeth H. Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine VAM Knoers, Han G. Brunner, Andrew P. Jackson, Ernie MHF Bongers

Orphanet J Rare Dis. 2015; 10: 114. Published online 2015 Sep 17. doi: 10.1186/s13023-015-0322-x

PMCID:: PMC4574002

Abstract Article PDF–789K

Select item 453819815.

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

Hannes Steinkellner, Julia Etzler, Laura Gogoll, Jürgen Neesen, Eva Stifter, Oliver Brandau, Franco Laccone

Eur J Hum Genet. 2015 Sep; 23(9): 1186–1191. Published online 2014 Dec 3. doi: 10.1038/ejhg.2014.264

PMCID:: PMC4538198

Abstract Article PDF–1.1M

Select item 490642016.

A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome

Devin M. Cox, Merlin G. Butler

J Pediatr Genet. 2015 Mar; 4(1): 34–37. doi: 10.1055/s-0035-1554980

PMCID:: PMC4906420

Abstract Article PDF–146K

Select item 484328317.

Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report

Fulesh Kunwar, Vidhi Pandya, Sonal R. Bakshi

J Clin Diagn Res. 2016 Mar; 10(3): GD03–GD05. Published online 2016 Mar 1. doi: 10.7860/JCDR/2016/15659.7414

PMCID:: PMC4843283

Abstract Article PDF–259K

Select item 458545518.

Mutations in CDK5RAP2 cause Seckel syndrome

Gökhan Yigit, Karen E Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser, Nina Bögershausen, Zehra Oya Uyguner, Umut Altunoglu, Gudrun Nürnberg, Peter Nürnberg, Anita Rauch, Yun Li, Christian Thomas Thiel, Bernd Wollnik

Mol Genet Genomic Med. 2015 Sep; 3(5): 467–480. Published online 2015 May 24. doi: 10.1002/mgg3.158

PMCID:: PMC4585455

Abstract Article PDF–2.8M

Select item 398520519.

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

Almira Zada, Farmaditya E. P. Mundhofir, Rolph Pfundt, Nico Leijsten, Willy Nillesen, Sultana M. H. Faradz, Nicole de Leeuw

Case Rep Genet. 2014; 2014: 530134. Published online 2014 Mar 30. doi: 10.1155/2014/530134

PMCID:: PMC3985205

Abstract Article PDF–1.2M

Select item 353194820.

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

A. Kuechler, J. Hentschel, I. Kurth, B. Stephan, E.-C. Prott, B. Schweiger, A. Schuster, D. Wieczorek, H.-J. Lüdecke

Mol Syndromol. 2012 Nov; 3(5): 223–229. Published online 2012 Oct 19. doi: 10.1159/000343746

PMCID:: PMC3531948

Abstract Article PDF–433K

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