PMC Articles for MedGen (Select 98067) - PMC

Deborah J Morris-Rosendahl, Reeval Segel, A Peter Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanik, Marc-Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes

Eur J Hum Genet. 2010 Oct; 18(10): 1100–1106. Published online 2010 May 26. doi: 10.1038/ejhg.2010.79

PMCID:: PMC2987448

Abstract Article PDF–740K

Select item 53702044.

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 57882725.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valerie Benoit, Alfonso Caro-Llopis, Nicola S. Cooper, François-Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn I. Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martinez, Sarju G. Mehta, Marie-Cécile Nassogne, Nina Powell-Hamilton, Rolph Pfundt, Monica Rosello, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen-Dumoulin, Alain Verloes, Charlotte von der Lippe, Emma Wakeling, Andrew O. M. Wilkie, Louise Wilson, Amy Yuen, DDD Study, Karen J. Low, Ruth A. Newbury-Ecob

Eur J Hum Genet. 2018 Jan; 26(1): 64–74. Published online 2017 Nov 27. doi: 10.1038/s41431-017-0038-6

PMCID:: PMC5788272

Abstract Article PDF–3.3M

Select item 25886666.

Novel Mutations in GJA1 Cause Oculodentodigital Syndrome

A. Fenwick, R.J. Richardson, J. Butterworth, M.J. Barron, M.J. Dixon

J Dent Res. Author manuscript; available in PMC 2008 Nov 28.

Published in final edited form as: J Dent Res. 2008 Nov; 87(11): 1021–1026. doi: 10.1177/154405910808701108

PMCID:: PMC2588666

Abstract Article PDF–843K

Select item 69784037.

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Lynnea Myers, Moira Blyth, Kamran Moradkhani, Dubravka Hranilović, Sam Polesie, Johan Isaksson, Ann Nordgren, Maja Bucan, Marie Vincent, Sven Bölte, Britt‐Marie Anderlid, Kristiina Tammimies

Mol Genet Genomic Med. 2020 Jan; 8(1): e1013. Published online 2019 Nov 15. doi: 10.1002/mgg3.1013

PMCID:: PMC6978403

Abstract Article PDF–540K

Select item 75032098.

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe‐Hatano, Kenji Kurosawa, Kenjiro Kosaki

Mol Genet Genomic Med. 2020 Sep; 8(9): e1364. Published online 2020 Jun 26. doi: 10.1002/mgg3.1364

PMCID:: PMC7503209

Abstract Article PDF–691K

Select item 12880969.

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Jacopo Celli, Ellen van Beusekom, Raoul C. M. Hennekam, M. Esther Gallardo, Dominique F. C. M. Smeets, Santiago Rodríguez de Córdoba, Jeffrey W. Innis, Moshe Frydman, Rainer König, Helen Kingston, John Tolmie, Lutgarde C. P. Govaerts, Hans van Bokhoven, Han G. Brunner

Am J Hum Genet. 2000 Feb; 66(2): 436–444. Published online 2000 Feb 9. doi: 10.1086/302779

PMCID:: PMC1288096

Abstract Article PDF–390K

Select item 105168010.

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

J Goodship, I Cross, P Scambler, J Burn

J Med Genet. 1995 Sep; 32(9): 746–748. doi: 10.1136/jmg.32.9.746

PMCID:: PMC1051680

Summary Page Browse PDF–592K

Select item 870114711.

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Roxana Popescu, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, Violeta Martiniuc, Cristina Gug, Luminiţa Păduraru, Maria Stamatin, Carmen C. Diaconu, Eusebiu Vlad Gorduza

Genes (Basel) 2021 Dec; 12(12): 1957. Published online 2021 Dec 7. doi: 10.3390/genes12121957

PMCID:: PMC8701147

Abstract Article PDF–3.7M

Select item 105146712.

Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.

R G Hutcheon, A Mallik, M Shaham

J Med Genet. 1998 Oct; 35(10): 865–867. doi: 10.1136/jmg.35.10.865

PMCID:: PMC1051467

Summary Page Browse PDF–700K

Select item 1000991313.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

Kun Yang, Xi Wang, Wei‐Qian Wang, Ming‐Yu Han, Li‐Min Hu, Dong‐Yang Kang, Jin‐Yuan Yang, Min Liu, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu

Mol Genet Genomic Med. 2023 Mar; 11(3): e2103. Published online 2022 Nov 14. doi: 10.1002/mgg3.2103

PMCID:: PMC10009913

Abstract Article PDF–1.6M

Select item 104998214.

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

K H Orstavik, N McFadden, J Hagelsteen, E Ormerod, C B van der Hagen

J Med Genet. 1994 Jul; 31(7): 570–572. doi: 10.1136/jmg.31.7.570

PMCID:: PMC1049982

Summary Page Browse PDF–711K

Select item 257018315.

Eye Malformations in Children with Heavy Alcohol Exposure in Utero

Elizabeth Y. Flanigan, Sofia Aros, Maria Ferraz Bueno, Mary Conley, James F. Troendle, Fernando Cassorla, James L. Mills

J Pediatr. Author manuscript; available in PMC 2009 Sep 1.

Published in final edited form as: J Pediatr. 2008 Sep; 153(3): 391–395. Published online 2008 Jun 20. doi: 10.1016/j.jpeds.2008.04.024

PMCID:: PMC2570183

Abstract Article PDF–57K

Select item 294184216.

Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

C. Wentzel, S.A. Lynch, E.-L. Stattin, F.H. Sharkey, G. Annerén, A.-C. Thuresson

Mol Syndromol. 2010 Aug; 1(2): 75–81. Published online 2010 Jun 9. doi: 10.1159/000314025

PMCID:: PMC2941842

Abstract Article PDF–160K

Select item 310524117.

Birth Outcomes, Lifetime Alcohol Dependence and Cognition in Middle Adulthood

Kristin M. Caspers, Stephan Arndt

J Addict Res Ther. Author manuscript; available in PMC 2011 Jun 1.

Published in final edited form as: J Addict Res Ther. 2010 Sep 29; 1(102): 1000102. doi: 10.4172/2155-6105.1000102

PMCID:: PMC3105241

Abstract Article PDF–339K

Select item 313788318.

Developmental Pathogenesis of Short Palpebral Fissure Length in Children with Fetal Alcohol Syndrome

Kenneth Lyons Jones, H. Eugene Hoyme, Luther K. Robinson, Miguel del Campo, Melanie A. Manning, Ludmila N. Bakhireva, Lela M. Prewitt, Christina D. Chambers

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2011 Jul 16.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2009 Aug; 85(8): 695–699. doi: 10.1002/bdra.20585

PMCID:: PMC3137883

Abstract Article PDF–532K

Select item 332627619.

Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

E. Zrnová, V. Vranová, J. Šoukalová, I. Slámová, M. Vilémová, R. Gaillyová, P. Kuglík

Mol Syndromol. 2012 Jan; 2(2): 88–93. Published online 2012 Jan 26. doi: 10.1159/000335334

PMCID:: PMC3326276

Abstract Article PDF–292K

Select item 482760220.

Neural Crest Development in Fetal Alcohol Syndrome

Susan M. Smith, Ana Garic, George R. Flentke, Mark E. Berres

Birth Defects Res C Embryo Today. Author manuscript; available in PMC 2016 Apr 11.

Published in final edited form as: Birth Defects Res C Embryo Today. 2014 Sep; 102(3): 210–220. Published online 2014 Sep 15. doi: 10.1002/bdrc.21078

PMCID:: PMC4827602

Abstract Article PDF–352K

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