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Select item 96265631.

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon

Eur J Hum Genet. 2022 Nov; 30(11): 1244–1254. Published online 2022 Aug 15. doi: 10.1038/s41431-022-01171-1

PMCID:: PMC9626563

Article PDF–1.4M

Select item 81127872.

Case report of a novel phenotype in 18q deletion syndrome

Roxana Elena Bohîlţea, Monica Mihaela Cîrstoiu, Florina Mihaela Nedelea, Natalia Turcan, Tiberiu Augustin Georgescu, Octavian Munteanu, Alexandru Baroş, Anca-Maria Istrate-Ofiţeru, Costin Berceanu

Rom J Morphol Embryol. 2020 Jul-Sep; 61(3): 905–910. Published online 2021 Jan 20. doi: 10.47162/RJME.61.3.29

PMCID:: PMC8112787

Article PDF–1.7M

Select item 94521993.

Evaluation of the nasal shape after orthognathic surgery

Wagner Ranier Maciel Dantas, Márcia Maria Fonseca da Silveira, Belmiro Cavalcanti do Egito Vasconcelos, Gabriela Granja Porto

Braz J Otorhinolaryngol. 2015 Jan-Feb; 81(1): 19–23. Published online 2014 Aug 28. doi: 10.1016/j.bjorl.2014.08.005

PMCID:: PMC9452199

Article PDF–568K

Select item 46597624.

Cephalometry in adults and children with neurofibromatosis type 1: implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”

Winnie Cung, Laura Friedman, Nicholas E. Khan, Elaine E. Romberg, Pamela J. Gardner, Carol W. Bassim, Andrea M. Baldwin, Brigitte C. Widemann, Douglas R. Stewart

Eur J Med Genet. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Eur J Med Genet. 2015 Nov; 58(11): 584–590. Published online 2015 Sep 8. doi: 10.1016/j.ejmg.2015.09.001

PMCID:: PMC4659762

Article PDF–412K

Select item 42691785.

Malouf Syndrome with Hypergonadotropic Hypogonadism and Cardiomyopathy: Two-Case Report and Literature Review

Dilek Benk Şilfeler, Atilla Karateke, Raziye Keskin Kurt, Özgür Aldemir, Alper Buğra Nacar, Ali Baloğlu

Case Rep Obstet Gynecol. 2014; 2014: 275710. Published online 2014 Dec 3. doi: 10.1155/2014/275710

PMCID:: PMC4269178

Article PDF–817K

Select item 34772606.

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia and skeletal abnormalities: a novel phenotype

Hitesh Shah, Susanne Bens, Almuth Caliebe, John M. Graham, Jr., Katta Mohan Girisha

Am J Med Genet A. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Am J Med Genet A. 2012 Nov; 158A(11): 2941–2945. Published online 2012 Sep 17. doi: 10.1002/ajmg.a.35618

PMCID:: PMC3477260

Article PDF–1.1M

Select item 28849187.

Rhinoplasty in the Hispanic Patient

Stephen Higuera, Daniel A. Hatef, Samuel Stal

Semin Plast Surg. 2009 Aug; 23(3): 207–214. doi: 10.1055/s-0029-1224800

PMCID:: PMC2884918

Article PDF–299K

Select item 10503488.

Fetal valproate syndrome: is there a recognisable phenotype?

R M Winter, D Donnai, J Burn, S M Tucker

J Med Genet. 1987 Nov; 24(11): 692–695. doi: 10.1136/jmg.24.11.692

PMCID:: PMC1050348

Summary Page Browse PDF–913K

Select item 102018689.

SMARCB1-Deficient Sinonasal Carcinoma: Case Report and Review of the Literature

Nasser M. AlMadan, Ebtehal A. AlEssa, Doaa A. AlGhamdi

Am J Case Rep. 2023; 24: e939244-1–e939244-6. Published online 2023 May 18. doi: 10.12659/AJCR.939244

PMCID:: PMC10201868

Article PDF–1.2M

Select item 929154010.

A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos‐Xavier, Andrea Superti‐Furga

Am J Med Genet A. 2022 Jan; 188(1): 319–325. Published online 2021 Sep 28. doi: 10.1002/ajmg.a.62506

PMCID:: PMC9291540

Article PDF–1.6M

Select item 711961611.

A new generic real-time reverse transcription polymerase chain reaction assay for vesiviruses; vesiviruses were not detected in human samples

Sanela Svraka, Erwin Duizer, Herman Egberink, Jojanneke Dekkers, Harry Vennema, Marion Koopmans

J Virol Methods. 2009 Apr; 157(1): 1–7. Published online 2009 Jan 21. doi: 10.1016/j.jviromet.2008.12.008

PMCID:: PMC7119616

Article PDF–1.0M

Select item 610504812.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Karlien Mul, Richard J.L.F. Lemmers, Marjolein Kriek, Patrick J. van der Vliet, Marlinde L. van den Boogaard, Umesh A. Badrising, John M. Graham, Jr, Angela E. Lin, Harrison Brand, Steven A. Moore, Katherine Johnson, Teresinha Evangelista, Ana Töpf, Volker Straub, Solange Kapetanovic García, Sabrina Sacconi, Rabi Tawil, Stephen J. Tapscott, Nicol C. Voermans, Baziel G.M. van Engelen, Corinne G.C. Horlings, Natalie D. Shaw, Silvère M. van der Maarel

Neurology. 2018 Aug 7; 91(6): e562–e570. doi: 10.1212/WNL.0000000000005958

PMCID:: PMC6105048

Article PDF–489K

Select item 565893213.

A novel polyomavirus from the nasal cavity of a giant panda (Ailuropoda melanoleuca)

Dunwu Qi, Tongling Shan, Zhijian Liu, Xutao Deng, Zhihe Zhang, Wenlei Bi, Jacob Robert Owens, Feifei Feng, Lisong Zheng, Feng Huang, Eric Delwart, Rong Hou, Wen Zhang

Virol J. 2017; 14: 207. Published online 2017 Oct 27. doi: 10.1186/s12985-017-0867-5

PMCID:: PMC5658932

Article PDF–618K

Select item 482082414.

Sequence features accurately predict genome-wide MeCP2 binding in vivo

H. Tomas Rube, Wooje Lee, Miroslav Hejna, Huaiyang Chen, Dag H. Yasui, John F. Hess, Janine M. LaSalle, Jun S. Song, Qizhi Gong

Nat Commun. 2016; 7: 11025. Published online 2016 Mar 24. doi: 10.1038/ncomms11025

PMCID:: PMC4820824

Article PDF–1.9M

Select item 459934815.

Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E. Wallace, Mark C. Hannibal, Michael F. Murray, Monica A. Giovanni, Deborah Terespolsky, Sandi Sodhi, Matteo Cassina, David Viskochil, Billur Moghaddam, Kristin Herman, Chester Brown, Anna Gambin, Sau Wai Cheung, Ankita Patel, Allen N. Lamb, Lisa G. Shaffer, Jay W. Ellison, J. Britt Ravnan, Paweł Stankiewicz, Jill A. Rosenfeld

Hum Mutat. Author manuscript; available in PMC 2015 Oct 9.

Published in final edited form as: Hum Mutat. 2013 Oct; 34(10): 1415–1423. Published online 2013 Aug 13. doi: 10.1002/humu.22384

PMCID:: PMC4599348

Article PDF–784K

Select item 459640016.

Genome-wide analysis of DNA methylation in pigs using reduced representation bisulfite sequencing

Minkyeung Choi, Jongin Lee, Min Thong Le, Dinh Truong Nguyen, Suhyun Park, Nagasundarapandian Soundrarajan, Kyle M. Schachtschneider, Jaebum Kim, Jin-Ki Park, Jin-Hoi Kim, Chankyu Park

DNA Res. 2015 Oct; 22(5): 343–355. Published online 2015 Sep 10. doi: 10.1093/dnares/dsv017

PMCID:: PMC4596400

Article PDF–1.1M

Select item 453819917.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels, Tjitske Kleefstra

Eur J Hum Genet. 2015 Sep; 23(9): 1176–1185. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.253

Correction in:: Eur J Hum Genet. 2015 Sep; 23(9): 1270.

PMCID:: PMC4538199

Article PDF–1.9M

Select item 429494218.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

J Med Genet. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631

PMCID:: PMC4294942

Article PDF–1.3M

Select item 378983619.

A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation

Vidhya Jagannathan, Jeanette Bannoehr, Philippe Plattet, Regula Hauswirth, Cord Drögemüller, Michaela Drögemüller, Dominique J. Wiener, Marcus Doherr, Marta Owczarek-Lipska, Arnaud Galichet, Monika M. Welle, Katarina Tengvall, Kerstin Bergvall, Hannes Lohi, Silvia Rüfenacht, Monika Linek, Manon Paradis, Eliane J. Müller, Petra Roosje, Tosso Leeb

PLoS Genet. 2013 Oct; 9(10): e1003848. Published online 2013 Oct 3. doi: 10.1371/journal.pgen.1003848

PMCID:: PMC3789836

Article PDF–1.1M

Select item 357556620.

A Bacterial Artificial Chromosome Transgene with Polymorphic Cd72 Inhibits the Development of Glomerulonephritis and Vasculitis in MRL-Fas^lpr Lupus Mice

Hisashi Oishi, Takahito Tsubaki, Tatsuhiko Miyazaki, Masao Ono, Masato Nose, Satoru Takahashi

J Immunol. 2013 Mar 1; 190(5): 2129–2137. Published online 2013 Jan 30. doi: 10.4049/jimmunol.1202196

PMCID:: PMC3575566

Article PDF–1.2M

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