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Select item 105795161.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard

J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223

PMCID:: PMC10579516

Article PDF–669K

Select item 83912752.

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli

Genes (Basel) 2021 Aug; 12(8): 1208. Published online 2021 Aug 5. doi: 10.3390/genes12081208

PMCID:: PMC8391275

Article PDF–896K

Select item 81041633.

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke

Mol Genet Genomic Med. 2021 Mar; 9(3): e1607. Published online 2021 Jan 20. doi: 10.1002/mgg3.1607

PMCID:: PMC8104163

Article PDF–814K

Select item 60856504.

Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report

Chamara Jayamanne, Sajith Sandamal, Kasun Jayasundara, Mayoorathy Saranavabavananthan, Sachith Mettananda

J Med Case Rep. 2018; 12: 217. Published online 2018 Aug 10. doi: 10.1186/s13256-018-1738-4

PMCID:: PMC6085650

Article PDF–535K

Select item 57081475.

Contiguous Gene Deletion of Chromosome 2p16.3-p21 as a Cause of Lynch Syndrome

Erin E. Salo-Mullen, Patricio B. Lynn, Lu Wang, Michael Walsh, Anuradha Gopalan, Jinru Shia, Christina Tran, Fung Ying Man, Sean McBride, Mark Schattner, Liying Zhang, Martin R. Weiser, Zsofia K. Stadler

Fam Cancer. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Fam Cancer. 2018 Jan; 17(1): 71–77. doi: 10.1007/s10689-017-0006-x

PMCID:: PMC5708147

Article PDF–819K

Select item 48865526.

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

Article PDF–626K

Select item 47951927.

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

Dina Fine, Hagit Flusser, Barak Markus, Zamir Shorer, Libe Gradstein, Shareef Khateeb, Yshia Langer, Ginat Narkis, Ruth Birk, Aharon Galil, Ilan Shelef, Ohad S Birk

Eur J Hum Genet. 2015 Dec; 23(12): 1729–1734. Published online 2014 Nov 12. doi: 10.1038/ejhg.2014.241

PMCID:: PMC4795192

Article PDF–1.4M

Select item 47694998.

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud

BMC Med Genet. 2016; 17: 15. Published online 2016 Feb 27. doi: 10.1186/s12881-016-0276-4

PMCID:: PMC4769499

Article PDF–1.3M

Select item 43754199.

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie Nesbitt, Holly A. Dubbs, Elaine H. Zackai, Michael J. Parker, Francisca Millan, Kenneth Rosenbaum, Golder N. Wilson, Ann Nordgren

Am J Hum Genet. 2015 Mar 5; 96(3): 507–513. doi: 10.1016/j.ajhg.2015.01.016

PMCID:: PMC4375419

Article PDF–912K

Select item 411579310.

Craniofacial and Dental Development in Costello Syndrome

Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica C. Massie, Cecilia Fairley, Katherine A. Rauen, Ophir D. Klein

Am J Med Genet A. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Am J Med Genet A. 2014 Jun; 0(6): 1425–1430. Published online 2014 Mar 25. doi: 10.1002/ajmg.a.36475

PMCID:: PMC4115793

Article PDF–662K

Select item 411567211.

Craniofacial and Dental Development in Cardio-facio-cutaneous Syndrome: The Importance of Ras Signaling Homeostasis

Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica Groth, Anna Martinez, Cecilia Fairley, Lauren A. Weiss, William E. Tidyman, Ophir D. Klein, Katherine A. Rauen

Clin Genet. Author manuscript; available in PMC 2014 Jul 30.

Published in final edited form as: Clin Genet. 2013 Jun; 83(6): 539–544. Published online 2012 Sep 27. doi: 10.1111/cge.12005

PMCID:: PMC4115672

Article PDF–260K

Select item 320862612.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Benjamin D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lars-Erik Wehner, Ute Hehr, Sherri Bale, Aimee Paulussen, Hubert J. Smeets, Emily Hardisty, Anna Tylki-Szymanska, Ewa Pronicka, Michelle Clemens, Elizabeth Mcpherson, Raoul Cm Hennekam, Jin Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Chayim Can Schell-Apacik, Carol W. Booth, Ronald L. Thomas, Sue Kenwrick, Amelia Keaton, Joan Z. Balog, Donald Hadley, Nan Zhou, Robert Long, Jorge I. Velez, Daniel E. Pineda-Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke

J Med Genet. Author manuscript; available in PMC 2011 Nov 7.

Published in final edited form as: J Med Genet. 2010 Aug; 47(8): 513–524. Published online 2009 Dec 2. doi: 10.1136/jmg.2009.073049

PMCID:: PMC3208626

Article

Select item 258477613.

Molecular and Clinical Characterization of a Recurrent Cryptic Unbalanced t(4q;18q) Resulting in an 18q Deletion and 4q Duplication.

Craig Horbinski, Erika M. Carter, Patricia L. Heard, Malini Sathanoori, Jie Hu, Jerry Vockley, Shelly Gunn, Daniel E. Hale, Urvashi Surti, Jannine D. Cody

Am J Med Genet A. Author manuscript; available in PMC 2009 Nov 15.

Published in final edited form as: Am J Med Genet A. 2008 Nov 15; 146A(22): 2898–2904. doi: 10.1002/ajmg.a.32557

PMCID:: PMC2584776

Article PDF–947K

Select item 168386314.

Allan-Herndon syndrome. I. Clinical studies.

R E Stevenson, H O Goodman, C E Schwartz, R J Simensen, W T McLean, Jr, C N Herndon

Am J Hum Genet. 1990 Sep; 47(3): 446–453.

PMCID:: PMC1683863

Summary Page Browse PDF–1.9M

Select item 105128515.

Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.

J P Fryns, C Van Lingen, K Devriendt, E Legius, P Raus

J Med Genet. 1998 Apr; 35(4): 333–335. doi: 10.1136/jmg.35.4.333

PMCID:: PMC1051285

Summary Page Browse PDF–928K

Select item 105106616.

A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

T Cai, D A Tagle, X Xia, P Yu, X X He, L Y Li, J H Xia

J Med Genet. 1997 Sep; 34(9): 772–776. doi: 10.1136/jmg.34.9.772

PMCID:: PMC1051066

Summary Page Browse PDF–1.2M

Select item 1031969117.

RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication

Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian

Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y

Retraction in:: Neurogenetics. 2024; 25(1): 49.

PMCID:: PMC10319691

Article

Select item 983084118.

Chromosome 2 Interstitial Deletion (del(2)(q14.1q22.1) Syndrome With Novel Skeletal and Central Nervous System Features

Rayyan Albarakati, Faroug Ababneh, Mohammed Alharbi, Rakan S Alzahrani, Mohammed F Almutairi

Cureus. 2023 Jan; 15(1): e33586. Published online 2023 Jan 10. doi: 10.7759/cureus.33586

PMCID:: PMC9830841

Article PDF–483K

Select item 892820419.

Xq21.1q21.31 Duplication in Two Male Siblings

Charlotte Ann Sherlaw-Sturrock, Sarah Graham, Anita Morgan, Lisa Reali, Swati Naik

Mol Syndromol. 2022 Feb; 13(2): 152–158. Published online 2021 Nov 1. doi: 10.1159/000518933

PMCID:: PMC8928204

Article PDF–449K

Select item 723687720.

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat

Juan Pablo Meza-Espinoza, Enrique Sáinz González, Christian J. N. León-León, Eliakym Arámbula-Meraz, José Alfredo Contreras-Gutiérrez, Noemí García-Magallanes, Jesús Madueña-Molina, Fred Luque-Ortega, Salvador Cervín-Serrano, Verónica Judith Picos-Cárdenas

Mol Cytogenet. 2020; 13: 17. Published online 2020 May 19. doi: 10.1186/s13039-020-00484-4

PMCID:: PMC7236877

Article PDF–3.6M

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