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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 117019522.

Genome scan reveals several loci associated with torus palatinus

Myoung Keun Lee, Ahmed M. El Sergani, Noah Herrick, Rebecca M. Green, Carmencita Padilla, Carmen J. Buxó, Ross E. Long, Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Lina M. Moreno Uribe, Wasiu L. Adeyemo, Azeez Butali, Mary L. Marazita, John R. Shaffer, Seth M. Weinberg

Orthod Craniofac Res. 2025 Feb; 28(1): 159–165. Published online 2024 Sep 18. doi: 10.1111/ocr.12857

PMCID:: PMC11701952

Abstract Article PDF–915K

Select item 116978913.

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome

Mengnan Chen, Dongmei Sun, Siu-Pok Yee, Zhaoyang Yuan, Li Lin, Bing Cui, Yi Wang, Chao Liu, Peihong Liu

BMC Mol Cell Biol. 2025; 26: 1. Published online 2025 Jan 2. doi: 10.1186/s12860-024-00526-4

PMCID:: PMC11697891

Abstract Article PDF–8.3M

Select item 116628354.

Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms

Dominika Matyskova, Michaela Richtrova, Alzbeta Novotna, Olga Koskova

Orphanet J Rare Dis. 2024; 19: 478. Published online 2024 Dec 20. doi: 10.1186/s13023-024-03505-2

PMCID:: PMC11662835

Abstract Article PDF–1.5M

Select item 116627415.

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 116196486.

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function

Wei Jiang, Jian Zhang, Molin Wang, Yongxin Zou, Qiao Liu, Yu Song, Gongping Sun, Yaoqin Gong, Fan Zhang, Baichun Jiang

Acta Neuropathol Commun. 2024; 12: 188. Published online 2024 Dec 4. doi: 10.1186/s40478-024-01903-y

PMCID:: PMC11619648

Abstract Article PDF–12M

Select item 116011037.

新生儿CHARGE综合征1例

高波, 肖淑, 陈晓文, 李茹, 王玲

Zhongguo Dang Dai Er Ke Za Zhi. 2024 Nov 15; 26(11): 1238–1244. Chinese. doi: 10.7499/j.issn.1008-8830.2406105

PMCID:: PMC11601103

Abstract Article PDF–1.0M

Select item 115999548.

EYA1基因变异的综合征家系临床表型和基因分析

邵华, 李勇桦, 赵恒, 林垦, 高燕, 明澄, 马静

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jul 3; 38(7): 636–640. Chinese. doi: 10.13201/j.issn.2096-7993.2024.07.015

PMCID:: PMC11599954

Abstract Article PDF–5.1M

Select item 115941939.

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 1157652510.

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 1154219711.

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 1153691112.

Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome

Chunxiao Han, Changshui Chen, Yuxin Zhang, Haibo Li

BMC Med Genomics. 2024; 17: 261. Published online 2024 Nov 5. doi: 10.1186/s12920-024-02035-x

PMCID:: PMC11536911

Abstract Article PDF–1.9M

Select item 1153235913.

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 1152641914.

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 1149497915.

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 1148248116.

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 1148054117.

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 1147674118.

Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review

Qi Li, Yuzhu Zheng, Xinyuan Guo, Jiang Xue

Mol Genet Genomic Med. 2024 Oct; 12(10): e70025. Published online 2024 Oct 14. doi: 10.1002/mgg3.70025

PMCID:: PMC11476741

Abstract Article PDF–525K

Select item 1144870419.

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 1144528620.

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

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