PMC Articles for MedGen (Select 336719) - PMC

C. Bergmann, J. Senderek, D. Anhuf, C. T. Thiel, A. B. Ekici, P. Poblete-Gutiérrez, M. van Steensel, D. Seelow, G. Nürnberg, H. H. Schild, P. Nürnberg, A. Reis, J. Frank, K. Zerres

Am J Hum Genet. 2006 Dec; 79(6): 1105–1109. Published online 2006 Oct 17. doi: 10.1086/509789

PMCID:: PMC1698700

Abstract Article PDF–472K

Select item 17354005.

Nail patella syndrome: a review of the phenotype aided by developmental biology

E Sweeney, A Fryer, R Mountford, A Green, I McIntosh

J Med Genet. 2003 Mar; 40(3): 153–162. doi: 10.1136/jmg.40.3.153

PMCID:: PMC1735400

Summary PDF–244K

Select item 22415836.

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Shaohua Tang, Qiyu Xu, Xueqin Xu, Jicheng Du, Xuemei Yang, Yusheng Jiang, Xiaoqin Wang, Nancy Speck, Taosheng Huang

BMC Med Genet. 2007; 8: 82. Published online 2007 Dec 31. doi: 10.1186/1471-2350-8-82

PMCID:: PMC2241583

Abstract Article PDF–652K

Select item 24270107.

Deletion 22q13.3 syndrome

Mary C Phelan

Orphanet J Rare Dis. 2008; 3: 14. Published online 2008 May 27. doi: 10.1186/1750-1172-3-14

PMCID:: PMC2427010

Abstract Article PDF–233K

Select item 29873418.

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1

Mira Genzer-Nir, Morad Khayat, Leonid Kogan, Hector I Cohen, Miriam Hershkowitz, Dan Geiger, Tzipora C Falik-Zaccai

Eur J Hum Genet. 2010 Jun; 18(6): 662–667. Published online 2010 Feb 10. doi: 10.1038/ejhg.2009.236

PMCID:: PMC2987341

Abstract Article PDF–427K

Select item 31858019.

Origin of XMRV and its Demise as a Human Pathogen Associated with Chronic Fatigue Syndrome

Oliver Hohn, Norbert Bannert

Viruses. 2011 Aug; 3(8): 1312–1319. Published online 2011 Jul 27. doi: 10.3390/v3081312

PMCID:: PMC3185801

Abstract Article PDF–506K

Select item 343996510.

The R-spondin protein family

Wim BM de Lau, Berend Snel, Hans C Clevers

Genome Biol. 2012; 13(3): 242. Published online 2012 Mar 22. doi: 10.1186/gb-2012-13-3-242

PMCID:: PMC3439965

Abstract Article PDF–612K

Select item 353231311.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

Tahir Naeem Khan, Joakim Klar, Sadia Nawaz, Muhammad Jameel, Muhammad Tariq, Naveed Altaf Malik, Shahid M Baig, Niklas Dahl

BMC Med Genet. 2012; 13: 120. Published online 2012 Dec 13. doi: 10.1186/1471-2350-13-120

PMCID:: PMC3532313

Abstract Article PDF–1.7M

Select item 384396712.

Disrupted ectodermal organ morphogenesis in mice with a conditional histone deacetylase 1, 2 deletion in the epidermis

Michael W. Hughes, Ting-Xin Jiang, Sung-Jan Lin, Yvonne Leung, Krzysztof Kobielak, Randall B. Widelitz, Cheng Ming Chuong

J Invest Dermatol. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: J Invest Dermatol. 2014 Jan; 134(1): 24–32. Published online 2013 Jun 21. doi: 10.1038/jid.2013.283

PMCID:: PMC3843967

Abstract Article PDF–1.7M

Select item 488655213.

Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

Leah Fleming, Monica Lemmon, Natalie Beck, Maria Johnson, Weiyi Mu, David Murdock, Joann Bodurtha, Julie Hoover-Fong, Ronald Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

Am J Med Genet A. Author manuscript; available in PMC 2016 May 31.

Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 77–86. Published online 2015 Sep 23. doi: 10.1002/ajmg.a.37369

PMCID:: PMC4886552

Abstract Article PDF–626K

Select item 537020414.

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau

J Hum Genet. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: J Hum Genet. 2017 Apr; 62(4): 465–471. Published online 2016 Dec 22. doi: 10.1038/jhg.2016.151

PMCID:: PMC5370204

Abstract Article PDF–478K

Select item 1076757815.

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report

Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2303. Published online 2023 Nov 6. doi: 10.1002/mgg3.2303

PMCID:: PMC10767578

Abstract Article PDF–2.9M

Select item 654955316.

A case of Coffin–Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant

Nikita R. Dsouza, Michael T. Zimmermann, Gabrielle C. Geddes

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003962. doi: 10.1101/mcs.a003962

PMCID:: PMC6549553

Abstract Article PDF–2.1M

Select item 675227317.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F. J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W. Y. Chu, Brain H. Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M. S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N. M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A. L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C. E. H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B. A. de Vries, Jill Clayton-Smith, Gijs W. E. Santen

Genet Med. 2019; 21(6): 1295–1307. Published online 2018 Nov 8. doi: 10.1038/s41436-018-0330-z