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Items: 1 to 20 of 25

1.
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
2.
A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.
A G Hunter, P J McAlpine, N L Rudd, F C Fraser
J Med Genet. 1977 Dec; 14(6): 430–437. doi: 10.1136/jmg.14.6.430
PMCID:
PMC1013640
SummaryPage BrowsePDF–1.6M
3.
Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.
S Ohdo, H Madokoro, T Sonoda, M Takei, H Yasuda, N Mori
J Med Genet. 1987 Oct; 24(10): 609–612. doi: 10.1136/jmg.24.10.609
PMCID:
PMC1050288
SummaryPage BrowsePDF–813K
4.
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome
Marios Kambouris, Rachid C Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, Rehab Ali, Hala Boulos, Patrick A Curmi, Hatem El-Shanti
Orphanet J Rare Dis. 2014; 9: 80. Published online 2014 Jun 7. doi: 10.1186/1750-1172-9-80
PMCID:
PMC4070100
AbstractArticlePDF–1.2M
5.
Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report
Valeria Guglielmi, Roberto Floris, Monica D’Adamo, Francesco Garaci, Giuseppe Novelli, Paolo Sbraccia
BMC Med Genet. 2016; 17: 18. Published online 2016 Mar 9. doi: 10.1186/s12881-016-0282-6
PMCID:
PMC4784440
AbstractArticlePDF–915K
6.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases
Patrick R. Blackburn, Sarah S. Barnett, Michael T. Zimmermann, Margot A. Cousin, Charu Kaiwar, Filippo Pinto e Vairo, Zhiyv Niu, Matthew J. Ferber, Raul A. Urrutia, Duygu Selcen, Eric W. Klee, Pavel N. Pichurin
Cold Spring Harb Mol Case Stud. 2017 May; 3(3): a001743. doi: 10.1101/mcs.a001743
PMCID:
PMC5411688
AbstractArticlePDF–3.6M
7.
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange–like presentation
Aixa Gonzalez Garcia, Julia Malone, Hong Li
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005322. doi: 10.1101/mcs.a005322
PMCID:
PMC7304356
AbstractArticlePDF–1.0M
8.
Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay
Timothy Tidwell, Malia Deshotel, Janice Palumbos, Chris Miller, Pinar Bayrak-Toydemir, John C. Carey
Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005728. doi: 10.1101/mcs.a005728
PMCID:
PMC7784487
AbstractArticlePDF–2.6M
9.
A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report
JI YOON HAN, JOONHONG PARK, WOORI JANG, HYOJIN CHAE, MYUNGSHIN KIM, YONGGOO KIM
Biomed Rep. 2016 Jul; 5(1): 18–22. Published online 2016 May 12. doi: 10.3892/br.2016.675
PMCID:
PMC4906703
AbstractArticlePDF–716K
10.
Lifting the Mouth Corner: A Systematic Review of Techniques, Clinical Outcomes, and Patient Satisfaction
Nanouk van der Sluis, Haydar A Gülbitti, Joris A van Dongen, Berend van der Lei
Aesthet Surg J. 2022 Aug; 42(8): 833–841. Published online 2022 Apr 4. doi: 10.1093/asj/sjac077
Correction in:
Aesthet Surg J. 2024 Jul; 44(7): 783.
PMCID:
PMC9342679
AbstractArticlePDF–7.1M
11.
Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report
H. C. Manju, Supriya Bevinakoppamath, Deepa Bhat, Akila Prashant, Jayaram S. Kadandale, P. V. V. Gowri Sairam
Mol Cytogenet. 2022; 15: 14. Published online 2022 Mar 26. doi: 10.1186/s13039-022-00591-4
PMCID:
PMC8962060
AbstractArticlePDF–1.4M
12.
An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature
Katrin Õunap, Sander Pajusalu, Olga Zilina, Tiia Reimand, Riina Žordania
Clin Case Rep. 2016 Aug; 4(8): 824–830. Published online 2016 Jul 22. doi: 10.1002/ccr3.632
PMCID:
PMC4974439
AbstractArticlePDF–726K
13.
Prader–Willi syndrome in neonates: twenty cases and review of the literature in Southern China
Ping Wang, Wei Zhou, Weiming Yuan, Longguang Huang, Ning Zhao, Xiaowen Chen
BMC Pediatr. 2016; 16: 124. Published online 2016 Aug 9. doi: 10.1186/s12887-016-0662-2
PMCID:
PMC4977863
AbstractArticlePDF–739K
14.
Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature
Yu Hu, XinDong Xue, JianHua Fu
Front Pediatr. 2021; 9: 633532. Published online 2021 Feb 18. doi: 10.3389/fped.2021.633532
PMCID:
PMC7930218
AbstractArticlePDF–163K
15.
High-efficiency Combination Treatment of Submental Neck Fullness
Carl K.L. Cheng
Plast Reconstr Surg Glob Open. 2019 Jul; 7(7): e2306. Published online 2019 Jul 25. doi: 10.1097/GOX.0000000000002306
PMCID:
PMC6952122
AbstractArticlePDF–202K
16.
Classification of Mouth Corners in Asian Women
Tae Kwang Jeong, Young Min Kim, Kyung Hee Min
Plast Reconstr Surg Glob Open. 2020 Feb; 8(2): e2608. Published online 2020 Feb 6. doi: 10.1097/GOX.0000000000002608
PMCID:
PMC7159957
AbstractArticlePDF–602K
17.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M. Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Eur J Hum Genet. 2023 Apr; 31(4): 461–468. Published online 2023 Feb 7. doi: 10.1038/s41431-023-01307-x
PMCID:
PMC10133310
AbstractArticlePDF–1.3M
18.
MED13L综合征患者的临床表型及遗传学分析
孟 庆杰, 何 学莲, 肖 晗, 夏 倩, 毕 博, 向 赟
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct 25; 19(10): 1083–1086. Chinese. doi: 10.7499/j.issn.1008-8830.2017.10.010
PMCID:
PMC7389282
AbstractArticlePDF–1.4M
19.
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini, Daniel Auld, Masoud Garshasbi
BMC Neurol. 2021; 21: 180. Published online 2021 Apr 28. doi: 10.1186/s12883-021-02204-w
PMCID:
PMC8080372
AbstractArticlePDF–5.1M
20.
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, Anne Moncla, Anne-Marie Frances, Marlène Rio, François-Guillaume Debray, Patrick Rump, Alice Masurel-Paulet, Nadège Gigot, Patrick Callier, Laurence Duplomb, Bernard Aral, Frédéric Huet, Christel Thauvin-Robinet, Laurence Faivre
Eur J Hum Genet. 2013 Jul; 21(7): 736–742. Published online 2012 Nov 28. doi: 10.1038/ejhg.2012.251
PMCID:
PMC3722949
AbstractArticlePDF–2.3M

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