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Items: 1 to 20 of 66

1.
2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, Pablo Lapunzina, Harry Pachajoa
BMC Pediatr. 2024; 24: 641. Published online 2024 Oct 9. doi: 10.1186/s12887-024-04843-7
PMCID:
PMC11462729
ArticlePDF–3.0M
2.
Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report
Gabriela Ręka, Katarzyna Wojciechowska, Monika Lejman
Appl Clin Genet. 2024; 17: 117–124. Published online 2024 Jul 15. doi: 10.2147/TACG.S465575
PMCID:
PMC11268518
ArticlePDF–4.8M
3.
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report
Juan Pablo Meza-Espinoza, Juan Ramón González-García, Nayeli Nieto-Marín, Liliana Itzel Patrón-Baro, Rosa María González-Arreola, Eliakym Arámbula-Meraz, Julio Benítez-Pascual, Alberto Kousuke De la Herrán-Arita, Claudia Desireé Norzagaray-Valenzuela, Marco Antonio Valdez-Flores, Tomás Adrián Carrillo-Cázares, Verónica Judith Picos-Cárdenas
Mol Cytogenet. 2024; 17: 17. Published online 2024 Jul 18. doi: 10.1186/s13039-024-00686-0
PMCID:
PMC11256661
ArticlePDF–1.5M
4.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Carolyn A. Allan, David J. Amor, Siddharth Banka, Donald G. Basel, Laura D. Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton-Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P. Gilfillan, Nina B. Gold, Karen W. Gripp, Emma Hobson, Alexander M. Holtz, A. Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Genomics England Research Consortium, Sébastien Küry, François Lecoquierre, Paul Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H. Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E. Posey, Rhonda E. Schnur, Marie Shaw, Elliot Stolerman, Julie P. Taylor, Erin Wadman, Emma Wakeling, Susan M. White, Lawrence C. Wong, James R. Lupski, Olivier Lichtarge, Mark A. Corbett, Jozef Gecz, Charles M. Nicolet, Peggy J. Farnham, Cheol-Hee Kim, Marwan Shinawi
Am J Hum Genet. 2024 Mar 7; 111(3): 487–508. Published online 2024 Feb 6. doi: 10.1016/j.ajhg.2024.01.007
PMCID:
PMC10940019
ArticlePDF–4.8M
5.
Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia
Norliana Ghazali, Normastura Abd Rahman, Thirumulu Ponnuraj Kannan, Azlina Ahmad, Sarina Sulong
BMC Oral Health. 2023; 23: 945. Published online 2023 Nov 29. doi: 10.1186/s12903-023-03464-3
PMCID:
PMC10685534
ArticlePDF–1.9M
6.
Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic
Xi Cheng, Fengzhou Du, Xiao Long, Jiuzuo Huang
Genes (Basel) 2023 Oct; 14(10): 1859. Published online 2023 Sep 24. doi: 10.3390/genes14101859
PMCID:
PMC10606748
ArticlePDF–1.3M
7.
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
ArticlePDF–669K
8.
Morphological and molecular characterization of Contracaecum australe (Nematoda: Anisakidae) parasitizing Phalacrocorax brasilianus (Aves: Phalacrocoracidae) on the north coast of Brazil
Ricardo Luis Sousa Santana, Elaine Lopes de Carvalho, José Ledamir Sindeaux, Neto, Michele Velasco Oliveira da Silva, Raul Henrique da Silva Pinheiro, Evonnildo Costa Gonçalves, Elane Guerreiro Giese
Rev Bras Parasitol Vet. 2023; 32(2): e003723. Published online 2023 Jun 30. doi: 10.1590/S1984-29612023039
PMCID:
PMC10321722
ArticlePDF–2.8M
9.
Racial/Ethnic Disparity in Association Between Fetal Alcohol Syndrome and Alcohol Intake During Pregnancy: Multisite Retrospective Cohort Study
Sarah Soyeon Oh, Bada Kang, Jewel Park, SangMin Kim, Eun-Cheol Park, Seung Hee Lee, Ichiro Kawachi
JMIR Public Health Surveill. 2023; 9: e45358. Published online 2023 Apr 21. doi: 10.2196/45358
Correction in:
JMIR Public Health Surveill. 2023; 9: e48460.
PMCID:
PMC10147559
Article
10.
The Pro-Apoptotic Bax Gene Modifies Susceptibility to Craniofacial Dysmorphology Following Gastrulation-Stage Alcohol Exposure
Eric W. Fish, Haley N. Mendoza-Romero, Charlotte A. Love, Constance J. Dragicevich, Michael D. Cannizzo, Karen E. Boschen, Austin Hepperla, Jeremy M. Simon, Scott E. Parnell
Birth Defects Res. Author manuscript; available in PMC 2023 Apr 14.
Published in final edited form as: Birth Defects Res. 2022 Nov 15; 114(19): 1229–1243. Published online 2022 Apr 9. doi: 10.1002/bdr2.2009
PMCID:
PMC10103739
ArticlePDF–2.0M
11.
Identification of a human estrogen receptor α tetrapeptidic fragment with dual antiproliferative and anti-nociceptive action
Baptiste Jouffre, Alexandre Acramel, Mathilde Belnou, Maria Francesca Santolla, Marianna Talia, Rosamaria Lappano, Fariba Nemati, Didier Decaudin, Lucie Khemtemourian, Wang-Qing Liu, Marcello Maggiolini, Alain Eschalier, Christophe Mallet, Yves Jacquot
Sci Rep. 2023; 13: 1326. Published online 2023 Jan 24. doi: 10.1038/s41598-023-28062-9
PMCID:
PMC9873809
ArticlePDF–2.8M
12.
Fetal Alcohol Spectrum Disorder in a Newborn
Tejal Patel, Sameer Narula, Elena Naderzad, Daven Early, Thiagarajan Nandhagopal
Cureus. 2022 Sep; 14(9): e28836. Published online 2022 Sep 6. doi: 10.7759/cureus.28836
PMCID:
PMC9536239
ArticlePDF–388K
13.
Inhibition of p38 mitogen-activated protein kinases may attenuate scar proliferation after cleft lip surgery in rabbits via Smads signaling pathway
Qian Ding, Jin Yue, Ling-fa Xue, Yao-xiang Xu, Wen-lin Xiao
Eur J Med Res. 2022; 27: 126. Published online 2022 Jul 20. doi: 10.1186/s40001-022-00757-1
PMCID:
PMC9301840
ArticlePDF–2.0M
14.
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)
Gerrye Mubungu, Prince Makay, Bouchra Boujemla, Stephane Yanda, Jennifer E. Posey, James R. Lupski, Vincent Bours, Prosper Lukusa, Koenraad Devriendt, Aimé Lumaka
Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 27.
Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 990–994. Published online 2020 Dec 29. doi: 10.1002/ajmg.a.62049
PMCID:
PMC9235023
ArticlePDF–606K
15.
A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome
Yonghua Chen, Qingqing Chen, Ke Yuan, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang
Genes (Basel) 2022 May; 13(5): 740. Published online 2022 Apr 22. doi: 10.3390/genes13050740
PMCID:
PMC9140414
ArticlePDF–2.5M
16.
Prenatal Exposure to Per- and Polyfluoroalkyl Substances and Facial Features at 5 Years of Age: A Study from the Danish National Birth Cohort
Jiajun Luo, Cecilia Høst Ramlau-Hansen, Ulrik Schiøler Kesmodel, Jingyuan Xiao, Vasilis Vasiliou, Nicole C. Deziel, Yawei Zhang, Jørn Olsen, Zeyan Liew
Environ Health Perspect. 2022 Jan; 130(1): 017006. Published online 2022 Jan 26. doi: 10.1289/EHP9478
PMCID:
PMC8791068
ArticlePDF–738K
17.
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon
Genes (Basel) 2021 Oct; 12(10): 1583. Published online 2021 Oct 7. doi: 10.3390/genes12101583
PMCID:
PMC8535745
ArticlePDF–4.4M
18.
Estimating the Community Prevalence, Child Traits, and Maternal Risk Factors of Fetal Alcohol Spectrum Disorders (FASD) from a Random Sample of School Children
Philip A. May, Julie M. Hasken, Stephen R. Hooper, Dixie M. Hedrick, Julia Jackson-Newsom, Chalise E. Mullis, Elizabeth Dobbins, Wendy O. Kalberg, David Buckley, Luther K. Robinson, Omar Abdul-Rahman, Margaret P. Adam, Melanie A. Manning, Tamison Jewett, H. Eugene Hoyme
Drug Alcohol Depend. Author manuscript; available in PMC 2022 Oct 1.
Published in final edited form as: Drug Alcohol Depend. 2021 Oct 1; 227: 108918. Published online 2021 Aug 2. doi: 10.1016/j.drugalcdep.2021.108918
PMCID:
PMC8499999
ArticlePDF–1.1M
19.
Cortical gyrification in children with attention deficit-hyperactivity disorder and prenatal alcohol exposure
Lisa A. Kilpatrick, Shantanu H. Joshi, Joseph O’Neill, Guldamla Kalender, Andrea Dillon, Karin M. Best, Katherine L. Narr, Jeffry R. Alger, Jennifer G. Levitt, Mary J. O’Connor
Drug Alcohol Depend. Author manuscript; available in PMC 2021 Sep 16.
Published in final edited form as: Drug Alcohol Depend. 2021 Aug 1; 225: 108817. Published online 2021 Jun 18. doi: 10.1016/j.drugalcdep.2021.108817
PMCID:
PMC8445068
ArticlePDF–383K
20.
Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy
Pan Gong, Xianru Jiao, Dan Yu, Zhixian Yang
Front Genet. 2021; 12: 649556. Published online 2021 Jun 30. doi: 10.3389/fgene.2021.649556
PMCID:
PMC8277933
ArticlePDF–740K

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