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Items: 1 to 20 of 50

1.
Rhinoplasty of a severe broad nose deformity caused by radical surgery on the maxillary sinus in childhood
Kenji Yamaguchi, Yoshimichi Imai, Akimichi Sato, Masahiro Tachi
Case Reports Plast Surg Hand Surg. 2017; 4(1): 56–59. Published online 2017 Jun 22. doi: 10.1080/23320885.2017.1341321
PMCID:
PMC5490652
AbstractArticlePDF–647K
2.
Syndrome Coffin-Siris et anomalies bucco-dentaires : une nouvelle observation
Afaf Houb-Dine, Hammouti Jalila, Fatima Zaoui, Asmae Benkaddour
Tunis Med. 2023 Apr; 101(4): 456–459. French. Publication en ligne 2023 avr. 5.
PMCID:
PMC11217953
AbstractArticlePDF–546K
3.
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
Genes (Basel) 2024 Jan; 15(1): 130. Published online 2024 Jan 20. doi: 10.3390/genes15010130
PMCID:
PMC10815465
AbstractArticlePDF–1.5M
4.
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review
Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek
Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208
PMCID:
PMC10298423
AbstractArticlePDF–401K
5.
Evolutionary Dynamics of the OR Gene Repertoire in Teleost Fishes: Evidence of an Association with Changes in Olfactory Epithelium Shape
Maxime Policarpo, Katherine E Bemis, James C Tyler, Cushla J Metcalfe, Patrick Laurenti, Jean-Christophe Sandoz, Sylvie Rétaux, Didier Casane
Mol Biol Evol. 2021 Sep; 38(9): 3742–3753. Published online 2021 May 5. doi: 10.1093/molbev/msab145
PMCID:
PMC8661438
AbstractArticlePDF–1.8M
6.
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation
Liangliang Li, Zhi Yi, Hongmin Xi, Lili Ma, Hui Shao, Wenwen Wang, Hong Pan, Miaomiao Li, Hong Jiang
Ital J Pediatr. 2019; 45: 109. Published online 2019 Aug 23. doi: 10.1186/s13052-019-0690-2
PMCID:
PMC6708249
AbstractArticlePDF–1.6M
7.
Pathogenic Variants in GPC4 Cause Keipert Syndrome
David J. Amor, Sarah E.M. Stephenson, Mirna Mustapha, Martin A. Mensah, Charlotte W. Ockeloen, Wei Shern Lee, Rick M. Tankard, Dean G. Phelan, Marwan Shinawi, Arjan P.M. de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L. Toler, V. Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumić, William Reardon, Charles Shaw-Smith, Richard J. Leventer, Martin B. Delatycki, Tjitske Kleefstra, Stefan Mundlos, Geert Mortier, Melanie Bahlo, Nicola J. Allen, Paul J. Lockhart
Am J Hum Genet. 2019 May 2; 104(5): 914–924. Published online 2019 Apr 11. doi: 10.1016/j.ajhg.2019.02.026
PMCID:
PMC6507040
AbstractArticlePDF–1.6M
8.
Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas Wierenga, Elizabeth Fanning, Dorothy K. Grange, Gail E. Graham, Carolina Galarreta, Marilyn C. Jones, Usha Kini, Helen Stewart, Jillian S. Parboosingh, Antonie D. Kline, A. Micheil Innes, Care for Rare Canada Consortium
Eur J Hum Genet. 2018 Sep; 26(9): 1272–1281. Published online 2018 Jun 14. doi: 10.1038/s41431-018-0187-2
PMCID:
PMC6117294
AbstractArticlePDF–836K
9.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M. Stuart, Kate E. Chandler, Neil A. Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C. Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T. Ma, Ruth McGowan, Maryse Des Medt, James O’Sullivan, Sylvie Odent, Michael J. Parker, Céline Pebrel-Richard, Florence Petit, Zornitza Stark, Sylvia Stockler-Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah R. Zahir, The DDD Study, Adrian S. Woolf, Siddharth Banka
Am J Hum Genet. 2017 Dec 7; 101(6): 1021–1033. Published online 2017 Dec 7. doi: 10.1016/j.ajhg.2017.11.006
PMCID:
PMC5812896
AbstractArticlePDF–2.4M
10.
Robinow syndrome: report of two patients and review of literature
Merlin G. Butler, William B. Wadlington
Clin Genet. Author manuscript; available in PMC 2017 Jun 30.
Published in final edited form as: Clin Genet. 1987 Feb; 31(2): 77–85. doi: 10.1111/j.1399-0004.1987.tb02773.x
PMCID:
PMC5493386
AbstractArticlePDF–1.1M
11.
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz
Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95
PMCID:
PMC4326722
AbstractArticlePDF–2.0M
12.
Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1
Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nürnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Höhne, Christian Becker, Mara Marongiu, Francesca Chiappe, Robert Kleta, Anita Rauch, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Cornelis Jakobs, Gerd Kurlemann, Antonio Cao, Peter Nürnberg, Frank Rutsch
Am J Hum Genet. 2007 May; 80(5): 971–981. Published online 2007 Mar 30. doi: 10.1086/516843
PMCID:
PMC1852730
AbstractArticlePDF–1.1M
13.
A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.
A L Collins, A E Cockwell, P A Jacobs, N R Dennis
J Med Genet. 1994 Jul; 31(7): 528–533. doi: 10.1136/jmg.31.7.528
PMCID:
PMC1049974
SummaryPage BrowsePDF–1.1M
14.
Brachymorphism-onychodysplasia-dysphalangism syndrome.
A Verloes, D Bonneau, O Guidi, M Berthier, D Oriot, L Van Maldergem, L Koulischer
J Med Genet. 1993 Feb; 30(2): 158–161. doi: 10.1136/jmg.30.2.158
PMCID:
PMC1016276
SummaryPage BrowsePDF–1.4M
15.
Pfeiffer syndrome: report of a family and review of the literature.
Y Naveh, A Friedman
J Med Genet. 1976 Aug; 13(4): 277–280. doi: 10.1136/jmg.13.4.277
PMCID:
PMC1013415
SummaryPage BrowsePDF–1.0M
16.
Karyotype 45,XX,−21/46,XX,21q− in an infant with symptoms of G-deletion syndrome I
Margareta Mikkelsen, S. Vestermark
J Med Genet. 1974 Dec; 11(4): 389–393. doi: 10.1136/jmg.11.4.389
PMCID:
PMC1013215
SummaryPage BrowsePDF–1.4M
17.
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
Viola Trevisani, Eleonora Balestri, Manuela Napoli, Stefano Giuseppe Caraffi, Maria Chiara Baroni, Francesca Peluso, Anna Colonna, Lorenzo Iughetti, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Genes (Basel) 2023 Sep; 14(9): 1745. Published online 2023 Aug 31. doi: 10.3390/genes14091745
PMCID:
PMC10530716
AbstractArticlePDF–14M
18.
A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
Tanmay Tarang, Keta Vagha, Adithya Kiran, Kushagra Singh
Cureus. 2022 Oct; 14(10): e30203. Published online 2022 Oct 11. doi: 10.7759/cureus.30203
PMCID:
PMC9650923
AbstractArticlePDF–621K
19.
Non-islet cell tumor hypoglycemia concurrent with acromegalic features: A case report and literature review
Xiaojing Wang, Naishi Li, Yi Xie, Liang Zhu, Ji Li, Feng Gu, Xinhua Xiao
Front Surg. 2022; 9: 968077. Published online 2022 Sep 22. doi: 10.3389/fsurg.2022.968077
PMCID:
PMC9540468
AbstractArticlePDF–1.2M
20.
Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9
Yu Ding, Jiande Chen, Yijun Tang, Li-Na Chen, Ru-En Yao, Tingting Yu, Yong Yin, Xiumin Wang, Jian Wang, Niu Li
Front Genet. 2022; 13: 940776. Published online 2022 Jul 22. doi: 10.3389/fgene.2022.940776
PMCID:
PMC9354949
AbstractArticlePDF–1.8M

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