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Select item 99390521.

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Mathilde Nizon, Jonathan Levy, Cecilia Mancini, Benjamin Cogné, Francesca Clementina Radio, Emanuele Agolini, Dario Cocciadiferro, Antonio Novelli, Mustafa A. Salih, Maria Paola Recalcati, Rosangela Arancio, Marianne Besnard, Anne‐Claude Tabet, Michael C. Kruer, Manuela Priolo, Bruno Dallapiccola, Marco Tartaglia

Clin Genet. 2023 Feb; 103(2): 156–166. Published online 2022 Nov 24. doi: 10.1111/cge.14247

PMCID:: PMC9939052

Article PDF–2.4M

Select item 55890712.

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

Karen W. Gripp, Katherine M. Robbins, Nara L. Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Makitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol-Church

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 7.

Published in final edited form as: Am J Med Genet A. 2015 Feb; 167A(2): 271–281. Published online 2014 Nov 13. doi: 10.1002/ajmg.a.36863

PMCID:: PMC5589071

Article PDF–719K

Select item 51271953.

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Montse Olivé, Judith Armstrong, Francesc Miralles, Adolf Pou, Michel Fardeau, Laura Gonzalez, Francesca Martínez, Dirk Fischer, Juan Antonio Martínez Matos, Alexey Shatunov, Lev Goldfarb, Isidre Ferrer

Neuromuscul Disord. Author manuscript; available in PMC 2016 Nov 29.

Published in final edited form as: Neuromuscul Disord. 2007 Jun; 17(6): 443–450. Published online 2007 Apr 5. doi: 10.1016/j.nmd.2007.02.009

PMCID:: PMC5127195

Article PDF–1.4M

Select item 51253894.

A clinical case report and literature review of the 3q29 microdeletion syndrome

Devin M. Cox, Merlin G. Butler

Clin Dysmorphol. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: Clin Dysmorphol. 2015 Jul; 24(3): 89–94. doi: 10.1097/MCD.0000000000000077

PMCID:: PMC5125389

Article PDF–1.0M

Select item 50979435.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina L. O’Grady, Heather A. Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osorio Abath Neto, Roger Bryan Sutton, Biljana Ilkovski, Norma Beatriz Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B. Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A. Ruparelia, Thierry Maisonobe, Anthony J. Peduto, Stephen W. Reddel, Monkol Lek, Taru Tukiainen, Beryl B. Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean-François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardicli, Kristen J. Nowak, Beril Talim, Haluk Topaloglu, Nigel G. Laing, Kathryn N. North, Daniel G. MacArthur, Sylvie Friant, Nigel F. Clarke, Robert J. Bryson-Richardson, Carsten G. Bönnemann, Jocelyn Laporte, Sandra T. Cooper

Am J Hum Genet. 2016 Nov 3; 99(5): 1086–1105. Published online 2016 Oct 13. doi: 10.1016/j.ajhg.2016.09.005

PMCID:: PMC5097943

Article PDF–7.3M

Select item 32765956.

22q11 Deletion Syndrome: A Genetic Subtype of Schizophrenia

Anne S. Bassett, Eva W.C. Chow

Biol Psychiatry. Author manuscript; available in PMC 2012 Feb 9.

Published in final edited form as: Biol Psychiatry. 1999 Oct 1; 46(7): 882–891. doi: 10.1016/s0006-3223(99)00114-6

PMCID:: PMC3276595

Article PDF–85K

Select item 31902507.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah Vergult, Danijela Krgovic, Bart Loeys, Stanislas Lyonnet, Agne Liedén, Britt-Marie Anderlid, Freddie Sharkey, Shelagh Joss, Geert Mortier, Björn Menten

Eur J Hum Genet. 2011 Oct; 19(10): 1032–1037. Published online 2011 Apr 20. doi: 10.1038/ejhg.2011.67

PMCID:: PMC3190250

Article PDF–351K

Select item 31252998.

Histology of the Pharyngeal Constrictor Muscle in 22q11.2 Deletion Syndrome and Non-Syndromic Children with Velopharyngeal Insufficiency

Josine C. C. Widdershoven, Nicole E. Spruijt, Wim G. M. Spliet, Corstiaan C. Breugem, Moshe Kon, Aebele B. Mink van der Molen

PLoS One. 2011; 6(6): e21672. Published online 2011 Jun 28. doi: 10.1371/journal.pone.0021672

PMCID:: PMC3125299

Article PDF–250K

Select item 25979969.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Hiba Risheg, Michael J Friez, P Andrew Futreal, Sarah Edkins, Jon Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, Richard J Simensen, Sumy M Joseph, Julie R Jones, Josef Gecz, Michael R Stratton, F Lucy Raymond, Roger E Stevenson

J Med Genet. 2007 Jul; 44(7): 472–477. Published online 2007 Mar 16. doi: 10.1136/jmg.2006.048637

PMCID:: PMC2597996

Article PDF–326K

Select item 173665410.

Psychiatric inpatients and chromosome deletions within 22q11.2

S. Sugama, T. Namihira, R. Matsuoka, N. Taira, Y. Eto, K. Maekawa

J Neurol Neurosurg Psychiatry. 1999 Dec; 67(6): 803–806. doi: 10.1136/jnnp.67.6.803

PMCID:: PMC1736654

Summary PDF–66K

Select item 105168011.

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 37923012.

Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jürg Ott, Helge Boman

Am J Hum Genet. 2003 Feb; 72(2): 375–383. Published online 2002 Dec 31. doi: 10.1086/346120

PMCID:: PMC379230

Article PDF–325K

Select item 1066927513.

Perceptual Pattern of Cleft-Related Speech: A Task-fMRI Study on Typical Mandarin-Speaking Adults

Yun Bai, Shaowei Liu, Mengxian Zhu, Binbing Wang, Sheng Li, Liping Meng, Xinghui Shi, Fei Chen, Hongbing Jiang, Chenghui Jiang

Brain Sci. 2023 Nov; 13(11): 1506. Published online 2023 Oct 25. doi: 10.3390/brainsci13111506

PMCID:: PMC10669275

Article PDF–2.0M

Select item 1062062514.

Miller-Fisher Syndrome With Initial Manifestation of Rhinolalia Aperta: A Case Report and Literature Review

Peter Pacut, Jee-Young Han, Mehdi Ghasemi

Cureus. 2023 Oct; 15(10): e46376. Published online 2023 Oct 2. doi: 10.7759/cureus.46376

PMCID:: PMC10620625

Article PDF–126K

Select item 997084315.

A Case of Dysphagia and Dysarthria Improved by Flexible-palatal Lift/augmentation Combination Prosthesis

Mami Hirasaki, Daisuke Takagi, Yoshiko Umeda, Motoki Moriwaki, Norimasa Katagiri, Akiko Nomoto, Tomohisa Ohno, Ichiro Fujishima

Prog Rehabil Med. 2023; 8: 20230006. Published online 2023 Mar 1. doi: 10.2490/prm.20230006

PMCID:: PMC9970843

Article PDF–2.0M

Select item 990657916.

Glomerulonephritis associated with systemic sclerosis: a case report

Sepehr Nayebirad, Alireza Ramandi, Fatemeh Nili, Reza Atef-Yekta, Zahra Tamartash, Samira Salehi, Hoda Kavosi

J Med Case Rep. 2023; 17: 49. Published online 2023 Feb 8. doi: 10.1186/s13256-022-03727-7

PMCID:: PMC9906579

Article PDF–1.2M

Select item 989563817.

Submental Flap in the Reconstruction of Palatal Defects

Mohsin Shaikh, Kanav Kumar, Rajan Kannan, Azmat Doctor, Sultan A. Pradhan

Indian J Otolaryngol Head Neck Surg. 2022 Dec; 74(Suppl 3): 6164–6169. Published online 2021 Sep 8. doi: 10.1007/s12070-021-02833-0

PMCID:: PMC9895638

Article PDF–479K

Select item 979218818.

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair

Qingming Wang, Shuangxi Cheng, Youqing Fu, Haiming Yuan

Front Genet. 2022; 13: 1040124. Published online 2022 Dec 9. doi: 10.3389/fgene.2022.1040124

PMCID:: PMC9792188

Article PDF–1.0M

Select item 944905419.

Trans-oral endoscopic partial adenoidectomy does not worsen the speech after cleft palate repair

Mosaad Abdel-Aziz, Badawy Khalifa, Ahmed Shawky, Mohammed Rashed, Nader Naguib, Asmaa Abdel-Hameed

Braz J Otorhinolaryngol. 2016 Jul-Aug; 82(4): 422–426. Published online 2015 Dec 18. doi: 10.1016/j.bjorl.2015.08.025

PMCID:: PMC9449054

Article PDF–459K

Select item 902365020.

A Deep Learning Algorithm for Objective Assessment of Hypernasality in Children with Cleft Palate

Vikram C. Mathad, Nancy Scherer, Kathy Chapman, Julie M. Liss, Visar Berisha

IEEE Trans Biomed Eng. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: IEEE Trans Biomed Eng. 2021 Oct; 68(10): 2986–2996. Published online 2021 Sep 20. doi: 10.1109/TBME.2021.3058424

PMCID:: PMC9023650

Article PDF–1.3M

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