U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 509

1.
Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)
Esra Nagehan Akyol Onder, Mine Ozkol, Nalan Nese, Can Taneli, Osman Orkun Cankorur, Ipek Ozunan
J Pediatr Genet. 2020 Jun; 9(2): 114–116. Published online 2019 Sep 23. doi: 10.1055/s-0039-1697624
PMCID:
PMC7183408
AbstractArticlePDF–163K
2.
Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood
Rupak Mahendhar, Paria Zarghamravanbakhsh, Maia Natalia Pavlovic, Radu Butuc, Issac Sachmechi
Cureus. 2018 Aug; 10(8): e3169. Published online 2018 Aug 21. doi: 10.7759/cureus.3169
PMCID:
PMC6197535
AbstractArticlePDF–1.9M
3.
Brachydactyly mental retardation syndrome with growth hormone deficiency
Alireza Arefzadeh, Pooyan Khalighinejad, Bahar Ataeinia, Pegah Parvar
Endocrinol Diabetes Metab Case Rep. 2018; 2018: 18-0068. Published online 2018 Jul 21. doi: 10.1530/EDM-18-0068
PMCID:
PMC6063990
AbstractArticlePDF–1.5M
4.
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4
Pablo Villavicencio-Lorini, Eva Klopocki, Marc Trimborn, Randi Koll, Stefan Mundlos, Denise Horn
Eur J Hum Genet. 2013 Jul; 21(7): 743–748. Published online 2012 Nov 28. doi: 10.1038/ejhg.2012.240
PMCID:
PMC3722943
AbstractArticlePDF–2.0M
5.
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea
Am J Hum Genet. 2010 Aug 13; 87(2): 219–228. doi: 10.1016/j.ajhg.2010.07.011
PMCID:
PMC2917703
AbstractArticlePDF–1.1M
6.
2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report
Sebastian Giraldo-Ocampo, Harry Pachajoa
BMC Pediatr. 2022; 22: 569. Published online 2022 Oct 4. doi: 10.1186/s12887-022-03620-8
PMCID:
PMC9531440
AbstractArticlePDF–843K
7.
Histone deacetylase-4 is required during early cranial neural crest development for generation of the zebrafish palatal skeleton
April DeLaurier, Yukio Nakamura, Ingo Braasch, Vishesh Khanna, Hiroyuki Kato, Shigeyuki Wakitani, John H Postlethwait, Charles B Kimmel
BMC Dev Biol. 2012; 12: 16. Published online 2012 Jun 7. doi: 10.1186/1471-213X-12-16
PMCID:
PMC3426487
AbstractArticlePDF–2.4M
8.
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L. Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, DDD Study, Andrea K. Hanson-Kahn, Mary Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard C. Caswell
HGG Adv. 2021 Jan 14; 2(1): 100015. Published online 2020 Nov 21. doi: 10.1016/j.xhgg.2020.100015
PMCID:
PMC7841527
AbstractArticlePDF–1.9M
9.
2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance
Francesca Marta Elli, Luisa de Sanctis, Bruno Madeo, Maria A. Maffini, Paolo Bordogna, Arianna Pirelli, Maura Arosio, Giovanna Mantovani
Front Endocrinol (Lausanne) 2019; 10: 604. Published online 2019 Aug 29. doi: 10.3389/fendo.2019.00604
PMCID:
PMC6727065
AbstractArticlePDF–719K
10.
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab. 2017 Jun; 22(2): 129–132. Published online 2017 Jun 28. doi: 10.6065/apem.2017.22.2.129
PMCID:
PMC5495980
AbstractArticlePDF–761K
11.
A Novel 2q37 Microdeletion Containing Human Neural Progenitors Genes Including STK25 Results in Severe Developmental Delay, Epilepsy, and Microcephaly
Jaime Imitola, Divya S. Khurana, Nadiya M. Teplyuk, Mark Zucker, Reena Jethva, Agustin Legido, Ana M. Krichevsky, Michael Frangieh, Christopher A. Walsh, Karen S. Carvalho
Am J Med Genet A. Author manuscript; available in PMC 2021 Mar 31.
Published in final edited form as: Am J Med Genet A. 2015 Nov; 167A(11): 2808–2816. Published online 2015 Aug 4. doi: 10.1002/ajmg.a.37268
PMCID:
PMC8011536
AbstractArticlePDF–2.5M
12.
Reorganization of inter‐chromosomal interactions in the 2q37‐deletion syndrome
Philipp G Maass, Anja Weise, Katharina Rittscher, Julia Lichtenwald, A Rasim Barutcu, Thomas Liehr, Atakan Aydin, Yvette Wefeld‐Neuenfeld, Laura Pölsler, Sigrid Tinschert, John L Rinn, Friedrich C Luft, Sylvia Bähring
EMBO J. 2018 Aug 1; 37(15): e96257. Published online 2018 Jun 19. doi: 10.15252/embj.201696257
PMCID:
PMC6068439
AbstractArticlePDF–8.0M
13.
Brief psychotic episode in a patient with chromosome 2q37 microdeletion syndrome
Kevin Lally, Nuraini Ibrahim, Mary Kelly, Gautam Gulati
BMJ Case Rep. 2017; 2017: bcr2017221012. Published online 2017 Nov 27. doi: 10.1136/bcr-2017-221012
PMCID:
PMC5720329
AbstractArticlePDF–212K
14.
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations
Elisa Tassano, Jens Buttgereit, Michael Bader, Margherita Lerone, Maria Teresa Divizia, Renata Bocciardi, Flavia Napoli, Giovanna Pala, Frédérique Sloan-Béna, Stefania Gimelli, Giorgio Gimelli
PLoS One. 2013; 8(6): e66048. Published online 2013 Jun 21. doi: 10.1371/journal.pone.0066048
PMCID:
PMC3689787
AbstractArticlePDF–1.3M
15.
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Nicolas Gruchy, Bruno Delobel, Marie-José Grégoire, Bruno Leheup, Laurence Taine, Didier Lacombe, Marie-Ange Delrue, Annick Toutain, Agathe Paubel, Francine Mugneret, Christel Thauvin-Robinet, Stéphanie Arpin, Cedric Le Caignec, Philippe Jonveaux, Mylène Beri, Nathalie Leporrier, Jacques Motte, Caroline Fiquet, Olivier Brichet, Monique Mozelle-Nivoix, Pascal Sabouraud, Nathalie Golovkine, Nathalie Bednarek, Dominique Gaillard, Martine Doco-Fenzy
Eur J Hum Genet. 2013 Jun; 21(6): 602–612. Published online 2012 Oct 17. doi: 10.1038/ejhg.2012.230
PMCID:
PMC3658200
AbstractArticlePDF–1.3M
16.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Genome Med. 2024; 16: 72. Published online 2024 May 30. doi: 10.1186/s13073-024-01339-y
PMCID:
PMC11137988
AbstractArticlePDF–5.5M
17.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
J Med Genet. 2024 Jun; 61(6): 503–519. Published online 2024 Mar 12. doi: 10.1136/jmg-2023-109438
PMCID:
PMC11137475
AbstractArticlePDF–1.0M
18.
Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome
A. Mishra, N. R. Jana
Cell Mol Life Sci. 2008 Feb; 65(4): 656–666. Published online 2008 Jan 12. doi: 10.1007/s00018-007-7476-1
PMCID:
PMC11131694
AbstractArticlePDF–1.3M
19.
Serum NfL and EGFR/NfL ratio mRNAs as biomarkers for phenotype and disease severity of myelin oligodendrocyte glycoprotein IgG-associated disease
Xin Wang, Yi Qu, Jiayu Fan, Huiqiang Ren
Front Immunol. 2024; 15: 1388734. Published online 2024 May 14. doi: 10.3389/fimmu.2024.1388734
PMCID:
PMC11130348
AbstractArticlePDF–982K
20.
Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects
Hanna Berger, Sarah Gerstner, Marc-Frederik Horstmann, Silke Pauli, Annette Borchers
Dis Model Mech. 2024 Jun 1; 17(6): dmm050507. Published online 2024 May 14. doi: 10.1242/dmm.050507
PMCID:
PMC11128277
AbstractArticle

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center