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Select item 45904341.

A strong genetic correlation underlying a behavioural syndrome disappears during development because of genotype–age interactions

Barbara Class, Jon E. Brommer

Proc Biol Sci. 2015 Jun 22; 282(1809): 20142777. doi: 10.1098/rspb.2014.2777

PMCID:: PMC4590434

Abstract Article PDF–367K

Select item 37306222.

Environmental transmission of a personality trait: foster parent exploration behaviour predicts offspring exploration behaviour in zebra finches

Wiebke Schuett, Sasha R. X. Dall, Alastair J. Wilson, Nick J. Royle

Biol Lett. 2013 Aug 23; 9(4): 20130120. doi: 10.1098/rsbl.2013.0120

PMCID:: PMC3730622

Abstract Article PDF–357K

Select item 37994963.

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

Yongbo Wang, Andreas Gogol-Döring, Hao Hu, Sebastian Fröhler, Yunxia Ma, Marvin Jens, Jonas Maaskola, Yasuhiro Murakawa, Claudia Quedenau, Markus Landthaler, Vera Kalscheuer, Dagmar Wieczorek, Yang Wang, Yuhui Hu, Wei Chen

EMBO Mol Med. 2013 Sep; 5(9): 1431–1442. Published online 2013 Aug 22. doi: 10.1002/emmm.201302663

PMCID:: PMC3799496

Abstract Article PDF–1.5M

Select item 38827294.

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Francine P. Favaro, Lucas Alvizi, Roseli M. Zechi-Ceide, Debora Bertola, Temis M. Felix, Josiane de Souza, Salmo Raskin, Stephen R.F. Twigg, Andrea M.J. Weiner, Pablo Armas, Ezequiel Margarit, Nora B. Calcaterra, Gregers R. Andersen, Simon J. McGowan, Andrew O.M. Wilkie, Antonio Richieri-Costa, Maria L.G. de Almeida, Maria Rita Passos-Bueno

Am J Hum Genet. 2014 Jan 2; 94(1): 120–128. doi: 10.1016/j.ajhg.2013.11.020

PMCID:: PMC3882729

Abstract Article PDF–2.6M

Select item 38960045.

Retirement investment theory explains patterns in songbird nest-site choice

Henry M. Streby, Jeanine M. Refsnider, Sean M. Peterson, David E. Andersen

Proc Biol Sci. 2014 Feb 22; 281(1777): 20131834. doi: 10.1098/rspb.2013.1834

PMCID:: PMC3896004

Abstract Article PDF–452K

Select item 39746396.

A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence

Zena T. Wolf, Elizabeth J. Leslie, Boaz Arzi, Kartika Jayashankar, Nili Karmi, Zhonglin Jia, Douglas J. Rowland, Amy Young, Noa Safra, Saundra Sliskovic, Jeffrey C. Murray, Claire M. Wade, Danika L. Bannasch

PLoS Genet. 2014 Apr; 10(4): e1004257. Published online 2014 Apr 3. doi: 10.1371/journal.pgen.1004257

PMCID:: PMC3974639

Abstract Article PDF–1.1M

Select item 39901597.

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

Jacqueline K. Rainger, Shipra Bhatia, Hemant Bengani, Philippe Gautier, Joe Rainger, Matt Pearson, Morad Ansari, Jayne Crow, Felicity Mehendale, Bozena Palinkasova, Michael J. Dixon, Pamela J. Thompson, Mar Matarin, Sanjay M. Sisodiya, Dirk A. Kleinjan, David R. FitzPatrick

Hum Mol Genet. 2014 May 15; 23(10): 2569–2579. Published online 2013 Dec 20. doi: 10.1093/hmg/ddt647

PMCID:: PMC3990159

Abstract Article PDF–1.1M

Select item 42599728.

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter M. Krawitz, Peter Nürnberg, Reiner Siebert, Hermann Manzke, Stefan Mundlos

Am J Hum Genet. 2014 Dec 4; 95(6): 763–770. doi: 10.1016/j.ajhg.2014.11.004

PMCID:: PMC4259972

Abstract Article PDF–1004K

Select item 43492809.

Impact of the revised International Prognostic Scoring System, cytogenetics and monosomal karyotype on outcome after allogeneic stem cell transplantation for myelodysplastic syndromes and secondary acute myeloid leukemia evolving from myelodysplastic syndromes: a retrospective multicenter study of the European Society of Blood and Marrow Transplantation

Christian Koenecke, Gudrun Göhring, Liesbeth C. de Wreede, Anja van Biezen, Christof Scheid, Liisa Volin, Johan Maertens, Jürgen Finke, Nicolaas Schaap, Marie Robin, Jakob Passweg, Jan Cornelissen, Dietrich Beelen, Michael Heuser, Theo de Witte, Nicolaus Kröger

Haematologica. 2015 Mar; 100(3): 400–408. doi: 10.3324/haematol.2014.116715

PMCID:: PMC4349280

Abstract Article PDF–1.2M

Select item 438978810.

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

Christopher T. Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Y. Tan, Arnold Munnich, Len A. Pennacchio, Véronique Abadie, I. Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David FitzPatrick, Dirk A. Kleinjan, Axel Visel, Stanislas Lyonnet

Hum Mutat. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Hum Mutat. 2014 Aug; 35(8): 1011–1020. doi: 10.1002/humu.22606

PMCID:: PMC4389788

Abstract Article PDF–1.7M

Select item 444348811.

Expansion of the TARP Syndrome Phenotype Associated with De Novo Mutations and Mosaicism

Jennifer J. Johnston, Julie C. Sapp, Cynthia Curry, Margaret Horton, Eyby Leon, Kristina Cusmano-Ozog, William B. Dobyns, Louanne Hudgins, Elaine Zackai, Leslie G. Biesecker

Am J Med Genet A. Author manuscript; available in PMC 2015 May 26.

Published in final edited form as: Am J Med Genet A. 2014 Jan; 0(1): 120–128. Published online 2013 Nov 20. doi: 10.1002/ajmg.a.36212

PMCID:: PMC4443488

Abstract Article PDF–3.7M

Select item 445230012.

Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish

Shipra Bhatia, Christopher T. Gordon, Robert G. Foster, Lucie Melin, Véronique Abadie, Geneviève Baujat, Marie-Paule Vazquez, Jeanne Amiel, Stanislas Lyonnet, Veronica van Heyningen, Dirk A. Kleinjan

PLoS Genet. 2015 Jun; 11(6): e1005193. Published online 2015 Jun 1. doi: 10.1371/journal.pgen.1005193

Correction in:: PLoS Genet. 2015 Oct; 11(10): e1005572.

PMCID:: PMC4452300

Abstract Article PDF–15M

Select item 449318713.

Femoral–facial syndrome in an infant of a diabetic mother

Saleem Ahmed, Saad Abdullah Alsaedi, Heidi Al-Wassia, Jumana Yousef Al-Aama

BMJ Case Rep. 2015; 2015: bcr2014208857. Published online 2015 Jul 6. doi: 10.1136/bcr-2014-208857

PMCID:: PMC4493187

Abstract Article PDF–496K

Select item 452296614.

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

Morana Vitezic, Nicolas Bertin, Robin Andersson, Leonard Lipovich, Hideya Kawaji, Timo Lassmann, Albin Sandelin, Peter Heutink, Dan Goldowitz, Thomas Ha, Peter Zhang, Annarita Patrizi, Michela Fagiolini, Alistair RR Forrest, Piero Carninci, Alka Saxena, The FANTOM Consortium

BMC Genomics. 2014; 15(1): 1177. Published online 2014 Dec 24. doi: 10.1186/1471-2164-15-1177

PMCID:: PMC4522966

Abstract Article PDF–1.6M

Select item 335920815.

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein

BMC Med Genet. 2012; 13: 19. Published online 2012 Mar 22. doi: 10.1186/1471-2350-13-19

PMCID:: PMC3359208

Abstract Article PDF–2.5M

Select item 464721116.

Disruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence

Carolina Parada, Dong Han, Alexandre Grimaldi, Patricia Sarrión, Shery S. Park, Richard Pelikan, Pedro A. Sanchez-Lara, Yang Chai

Development. 2015 Nov 1; 142(21): 3734–3745. doi: 10.1242/dev.125328

PMCID:: PMC4647211

Abstract Article

Select item 490526117.

Disease-causing mutations of RhoGDIα induce Rac1 hyperactivation in podocytes

David Auguste, Mirela Maier, Cindy Baldwin, Lamine Aoudjit, Richard Robins, Indra R. Gupta, Tomoko Takano

Small GTPases. 2016 Apr-Jun; 7(2): 107–121. Published online 2016 Jan 4. doi: 10.1080/21541248.2015.1113353

PMCID:: PMC4905261

Abstract Article PDF–1.2M

Select item 540313218.

SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements

Marta Smyk, Kadir Caner Akdemir, Paweł Stankiewicz

Nucleus. 2017; 8(2): 182–187. Published online 2017 Jan 13. doi: 10.1080/19491034.2017.1279776

PMCID:: PMC5403132

Abstract Article PDF–571K

Select item 543222219.

BMPR1B mutation causes Pierre Robin sequence

Yongjia Yang, Jianying Yuan, Xu Yao, Rong Zhang, Hui Yang, Rui Zhao, Jihong Guo, Ke Jin, Haibo Mei, Yongqi Luo, Liu Zhao, Ming Tu, Yimin Zhu

Oncotarget. 2017 Apr 18; 8(16): 25864–25871. Published online 2017 Mar 23. doi: 10.18632/oncotarget.16531

PMCID:: PMC5432222

Abstract Article PDF–1.8M

Select item 545512520.

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones

BMC Med Genet. 2017; 18: 60. Published online 2017 Jun 2. doi: 10.1186/s12881-017-0426-3

PMCID:: PMC5455125

Abstract Article PDF–623K

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PMC Articles for MedGen (Select 358176) (114)
PMC
Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1...
Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA
gi|258613874|ref|NM_015493.6|

Nucleotide
Pathogen: clinical or host-associated sample from Bordetella pertussis
Pathogen: clinical or host-associated sample from Bordetella pertussis

biosample
Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 2...
Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 2, mRNA
gi|258645111|ref|NM_001136191.2|

Nucleotide
RNA, Small Cytoplasmic
RNA, Small Cytoplasmic
Small RNAs found in the cytoplasm usually complexed with proteins in scRNPs (RIBONUCLEOPROTEINS, SMALL CYTOPLASMIC).<br/>Year introduced: 2000

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