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Select item 117114991.

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)

Peyman Ranji, Eleonore Pairet, Raphael Helaers, Bénédicte Bayet, Alexander Gerdom, Vera Lúcia Gil-da-Silva-Lopes, Nicole Revencu, Miikka Vikkula

Eur J Hum Genet. 2025 Jan; 33(1): 38–43. Published online 2024 Nov 6. doi: 10.1038/s41431-024-01727-3

PMCID:: PMC11711499

Abstract Article PDF–654K

Select item 116627412.

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil

Isabela Mayá Wayhs Silva, Milena Atique Tacla, Erlane Marques Ribeiro, Elaine Lustosa-Mendes, Agnes Cristina Fett-Conte, Têmis Maria Félix, Ana Carolina Xavier, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes

J Pediatr (Rio J) 2024 Nov-Dec; 100(6): 604–608. Published online 2024 Jul 22. doi: 10.1016/j.jped.2024.07.002

PMCID:: PMC11662741

Abstract Article PDF–397K

Select item 115941933.

The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer

Lea Gossner, Dietmar Rieder, Thomas Müller, Andreas R. Janecke

Genes (Basel) 2024 Nov; 15(11): 1475. Published online 2024 Nov 15. doi: 10.3390/genes15111475

PMCID:: PMC11594193

Abstract Article PDF–779K

Select item 115765254.

Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations

Ji Wan Park, Geon Kang, Seung-Hak Baek, Young Ho Kim

Epidemiol Health. 2024; 46: e2024069. Published online 2024 Aug 9. doi: 10.4178/epih.e2024069

PMCID:: PMC11576525

Abstract Article PDF–1.8M

Select item 115421975.

Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?

Xiaojin Luo, Hongyan Niu, Fei Zhou, Xiaohang Chen, Yuanyuan Pei, Weiqiang Liu, Fengxiang Wei

BMC Pregnancy Childbirth. 2024; 24: 727. Published online 2024 Nov 6. doi: 10.1186/s12884-024-06920-2

PMCID:: PMC11542197

Abstract Article PDF–1.1M

Select item 115383906.

High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene

Fedik Rahimov, Pekka Nieminen, Priyanka Kumari, Emma Juuri, Tiit Nikopensius, Kitt Paraiso, Jakob German, Antti Karvanen, Mart Kals, Abdelrahman G. Elnahas, Juha Karjalainen, Mitja Kurki, Aarno Palotie, FinnGen, Estonian Biobank Research Team, Arja Heliövaara, Tõnu Esko, Sakari Jukarainen, Priit Palta, Andrea Ganna, Anjali P. Patni, Daniel Mar, Karol Bomsztyk, Julie Mathieu, Hannele Ruohola-Baker, Axel Visel, Walid D. Fakhouri, Brian C. Schutte, Robert A. Cornell, David P. Rice

Nat Commun. 2024; 15: 9568. Published online 2024 Nov 6. doi: 10.1038/s41467-024-53634-2

PMCID:: PMC11538390

Abstract Article PDF–2.0M

Select item 115323597.

Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting

Anna Siewert, Simone Hoeland, Elisabeth Mangold, Kerstin U. Ludwig

Sci Rep. 2024; 14: 26492. Published online 2024 Nov 3. doi: 10.1038/s41598-024-77724-9

PMCID:: PMC11532359

Abstract Article PDF–3.5M

Select item 115264198.

Epigenetic implications in maternal diabetes and metabolic syndrome-associated risk of orofacial clefts

Bo Sun, Kurt S. Reynolds, Michael A. Garland, Moira McMahon, Subbroto K. Saha, Chengji J. Zhou

Birth Defects Res. Author manuscript; available in PMC 2024 Nov 15.

Published in final edited form as: Birth Defects Res. 2023 Nov 15; 115(19): 1835–1850. Published online 2023 Jul 27. doi: 10.1002/bdr2.2226

PMCID:: PMC11526419

Abstract Article PDF–667K

Select item 114949799.

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants

M. Batkova, M. Havlovicova, A. Nocar, L. Dudakova, M. Macek, Petra Liskova, Tatjana Dostalova

BMC Oral Health. 2024; 24: 1264. Published online 2024 Oct 22. doi: 10.1186/s12903-024-05005-y

PMCID:: PMC11494979

Abstract Article PDF–2.1M

Select item 1148248110.

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva, Alexander Koroteev, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev

Int J Mol Sci. 2024 Oct; 25(19): 10844. Published online 2024 Oct 9. doi: 10.3390/ijms251910844

PMCID:: PMC11482481

Abstract Article PDF–1.5M

Select item 1148054111.

中国人群非综合征型唇裂伴或不伴腭裂的单核苷酸多态性遗传度

薛恩慈, 陈曦, 王雪珩, 王斯悦, 王梦莹, 李劲, 秦雪英, 武轶群, 李楠, 李静, 周治波, 朱洪平, 吴涛, 陈大方, 胡永华

Beijing Da Xue Xue Bao Yi Xue Ban. 2024 Oct 18; 56(5): 775–780. Chinese. Published online 2024 May 28. doi: 10.19723/j.issn.1671-167X.2024.05.004

PMCID:: PMC11480541

Abstract Article PDF–934K

Select item 1146780212.

Single‐cell transcriptome and chromatin accessibility mapping of upper lip and primary palate fusion

Sini Cai, Ningbei Yin

J Cell Mol Med. 2024 Oct; 28(19): e70128. Published online 2024 Oct 11. doi: 10.1111/jcmm.70128

PMCID:: PMC11467802

Abstract Article PDF–11M

Select item 1144870413.

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia

Alevtina Gall, Marita Bosticardo, Stacey Ma, Karin Chen, Kayla Amini, Francesca Pala, Ottavia M. Delmonte, Tara Wenger, Michael Bamshad, John Sleasman, Matthew Blessing, Nicolai S. C. van Oers, Luigi D. Notarangelo, M. Teresa de la Morena

Front Immunol. 2024; 15: 1438383. Published online 2024 Sep 18. doi: 10.3389/fimmu.2024.1438383

PMCID:: PMC11448704

Abstract Article PDF–1.7M

Select item 1144528614.

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology

Petra Nord, Ashley H. Ebanks, Petra Peterson, Erik Iwarsson, Matthew T. Harting, Carmen Mesas Burgos, For the Congenital Diaphragmatic Hernia Study Group

Pediatr Surg Int. 2024; 40(1): 259. Published online 2024 Oct 1. doi: 10.1007/s00383-024-05843-5

PMCID:: PMC11445286

Abstract Article PDF–695K

Select item 1144244215.

Association of rs401681 (C > T) and rs402710 (C > T) polymorphisms in the CLPTM1L region with risk of lung cancer: a systematic review and meta-analysis

Xiaozheng Wu, Wen Li, Yunzhi Chen

Sci Rep. 2024; 14: 22603. Published online 2024 Sep 30. doi: 10.1038/s41598-024-73254-6

PMCID:: PMC11442442

Abstract Article PDF–3.3M

Select item 1143995316.

Alterations of senescence-associated markers in patients with non-syndromic cleft lip and palate

Chirakan Charoenvicha, Jirapan Thongsroy, Nattayaporn Apaijai, Tanawat Attachaipanich, Wimon Sirimaharaj, Krit Khwanngern, Nipon Chattipakorn, Apiwat Mutirangura, Siriporn C. Chattipakorn

Sci Rep. 2024; 14: 22555. Published online 2024 Sep 29. doi: 10.1038/s41598-024-74353-0

PMCID:: PMC11439953

Abstract Article PDF–2.0M

Select item 1139501517.

Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population

Alicja Zawiślak, Krzysztof Woźniak, Beata Kawala, Satish Gupta, Anna Znamirowska-Bajowska, Katarzyna Grocholewicz, Jan Lubiński, Anna Jakubowska

Int J Mol Sci. 2024 Sep; 25(17): 9310. Published online 2024 Aug 28. doi: 10.3390/ijms25179310

PMCID:: PMC11395015

Abstract Article PDF–243K

Select item 1134403818.

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis

Caroline Caetano da Silva, Claudio Macias Trevino, Jason Mitchell, Hemma Murali, Casey Tsimbal, Eileen Dalessandro, Shannon H. Carroll, Simren Kochhar, Sarah W. Curtis, Ching Hsun Eric Cheng, Feng Wang, Eric Kutschera, Russ P. Carstens, Yi Xing, Kai Wang, Elizabeth J. Leslie, Eric C. Liao

Commun Biol. 2024; 7: 1040. Published online 2024 Aug 23. doi: 10.1038/s42003-024-06715-3

PMCID:: PMC11344038

Abstract Article PDF–3.9M

Select item 1133789519.

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Shujuan Yan, Qiuxia Yu, Hang Zhou, Ruibin Huang, You Wang, Chunling Ma, Fei Guo, Fang Fu, Ru Li, Fucheng Li, Xiangyi Jin, Li Zhen, Min Pan, Dongzhi Li, Can Liao

Ital J Pediatr. 2024; 50: 152. Published online 2024 Aug 21. doi: 10.1186/s13052-024-01720-y

PMCID:: PMC11337895

Abstract Article PDF–901K

Select item 1131807420.

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts

Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W. Curtis, Elizabeth J. Leslie, Lukas M. Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao

HGG Adv. 2024 Jul 18; 5(3): 100313. Published online 2024 May 27. doi: 10.1016/j.xhgg.2024.100313

PMCID:: PMC11318074

Abstract Article PDF–2.7M

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