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Items: 1 to 20 of 1447

1.
Retinal detachment in Type IX collagen recessive Stickler syndrome
Daniel Maghsoudi, Thomas RW Nixon, Howard Martin, Allan J Richards, Annie M McNinch, Philip Alexander, Arabella V Poulson, Martin P Snead
Eye (Lond) 2025 Jan; 39(1): 133–138. Published online 2024 Oct 15. doi: 10.1038/s41433-024-03393-7
PMCID:
PMC11733291
ArticlePDF–432K
2.
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia
Swati Singh, Sumita Danda, Neetu Sharma, Hitesh Shah, Vrisha Madhuri, Tariq Altaf Mir, Nadia Zipporah Padala, Raghavender Medishetti, Alka Ekbote, Gandham SriLakshmi Bhavani, Aarti Sevilimedu, Katta M. Girisha
Eur J Hum Genet. 2025 Jan; 33(1): 30–37. Published online 2024 Nov 6. doi: 10.1038/s41431-024-01725-5
PMCID:
PMC11711675
ArticlePDF–1.4M
3.
The Effect of Mixed Articulation Therapy on Perceptual and Acoustic Features of Compensatory Errors in Children with Cleft Palate
Mahdiye Tavakoli, Nahid Jalilevand, Mahmood Bijankhan, Farhad Torabinezhad, Reyhane Mohamadi, Noor Ahmad Latifi
Med J Islam Repub Iran. 2024; 38: 116. Published online 2024 Oct 8. doi: 10.47176/mjiri.38.116
PMCID:
PMC11707730
ArticlePDF–1.0M
4.
Cleft palate, congenital heart disease, and developmental delay involving MEIS2 heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report
Fang Shen, Junyan Li, Dandan Li, Hui Zhou
Front Pediatr. 2024; 12: 1500152. Published online 2024 Dec 24. doi: 10.3389/fped.2024.1500152
PMCID:
PMC11703840
ArticlePDF–343K
5.
Cleft Palate and Presurgical Orthopedics: A Systematic Review and Meta-Analysis of Intra-Arch Dimensions During the First Year of Life
Ana Rabal-Soláns, Carmen Mediero-Pérez, Rosa M. Yáñez-Vico
J Pers Med. 2024 Dec; 14(12): 1127. Published online 2024 Nov 29. doi: 10.3390/jpm14121127
PMCID:
PMC11677672
ArticlePDF–3.4M
6.
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
ArticlePDF–1.5M
7.
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
ArticlePDF–397K
8.
Evaluation of hard palate and cleft morphology in neonates with Pierre Robin Sequence and Cleft Palate Only
Ines Willershausen, Nils Krautkremer, Armin Ströbel, Tariq Abu‐Tair, Friedrich Paulsen, Karin Strobel, Markus Kopp, Matthias Stefan May, Michael Uder, Franziska Krautkremer, Lina Gölz
Orthod Craniofac Res. 2024 Dec; 27(Suppl 2): 155–163. Published online 2024 May 23. doi: 10.1111/ocr.12818
PMCID:
PMC11654354
ArticlePDF–1.4M
9.
A mixed‐methods pilot randomized control trial of ultrasound visual biofeedback versus standard intervention for children with cleft palate ± cleft lip: Parents’ and children's perspectives
Joanne Cleland, Robyn McCluskey, Marie Dokovova, Lisa Crampin, Linsay Campbell
Int J Lang Commun Disord. 2025 Jan-Feb; 60(1): e13144. Published online 2024 Dec 9. doi: 10.1111/1460-6984.13144
PMCID:
PMC11626862
ArticlePDF–388K
10.
Phase I-IIa clinical trial to evaluate the safety, feasibility and efficacy of the use of a palate mucosa generated by tissue engineering for the treatment of children with cleft palate: the BIOCLEFT study protocol
Antonio España-López, Ricardo Fernández-Valadés, Elisa Cubiles, Ingrid Garzón, Miguel Angel Martin-Piedra, Víctor Carriel, Fernando Campos, Adoración Martínez-Plaza, Daniel Vallejo, Esther Liceras-Liceras, Jesús Chato-Astrain, Oscar Dario García-García, David Sánchez-Porras, Paula Ávila-Fernández, Miguel Etayo-Escanilla, Blanca Quijano, Elisabet Aguilar, Antonio Campos, Gloria Carmona, Miguel Alaminos
BMJ Open. 2024; 14(12): e093491. Published online 2024 Dec 5. doi: 10.1136/bmjopen-2024-093491
PMCID:
PMC11624797
ArticlePDF–814K
11.
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid, Håkan Thonberg, Jesper Eisfeldt, Anna Lindstrand
Sci Rep. 2024; 14: 30343. Published online 2024 Dec 5. doi: 10.1038/s41598-024-81507-7
PMCID:
PMC11621304
ArticlePDF–1.8M
12.
Risk of pneumonia among children with cleft palate before and after palatoplasty: a population-based study
Yotam Eyni, Tomer Kerman, Dana Danino, Aviv Goldbart, Eldad Silberstein
Eur J Pediatr. 2025; 184(1): 56. Published online 2024 Dec 2. doi: 10.1007/s00431-024-05901-z
PMCID:
PMC11611938
ArticlePDF–697K
13.
Proteomic analysis illustrates the potential involvement of dysregulated ribosome-related pathways and disrupted metabolism during retinoic acid-induced cleft palate development
Wancong Zhang, Liyun Chen, Aiwei Ma, Wenshi Jiang, Mengjing Xu, Xujue Bai, Jianda Zhou, Shijie Tang
BMC Med Genomics. 2024; 17: 280. Published online 2024 Nov 29. doi: 10.1186/s12920-024-02054-8
PMCID:
PMC11605882
ArticlePDF–2.5M
14.
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
ArticlePDF–1.0M
15.
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
ArticlePDF–779K
16.
Severe periodontitis and congenital cytomegalovirus: Cleft lip and cleft palate
Jørgen Slots, Vanessa Slots
Periodontol 2000. 2024 Oct; 96(1): 185–188. Published online 2024 Sep 11. doi: 10.1111/prd.12606
PMCID:
PMC11579806
ArticlePDF–240K
17.
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
ArticlePDF–1.8M
18.
Unbiased transcriptome analysis of human cleft palate reveals evolutionally conserved molecular signatures of development: experimental study
Taehee Jo, Jeonghoon Kim, Jaehoon Choi, Junhyung Kim, Woonhyeok Jeong
Int J Surg. 2024 Nov; 110(11): 6933–6940. Published online 2024 Jun 21. doi: 10.1097/JS9.0000000000001841
PMCID:
PMC11573051
ArticlePDF–1.0M
19.
Hairy Polyp Presenting With Respiratory Distress in an Infant With Cleft Palate
Yuji Fujita, Yurie Takise, Yuni Masuyama, Itsuo Nakajima, Yumi Nozawa, Kazuyuki Ishida, Shigemi Yoshihara
Cureus. 2024 Oct; 16(10): e71489. Published online 2024 Oct 14. doi: 10.7759/cureus.71489
PMCID:
PMC11571279
ArticlePDF–1.1M
20.
Robert H. Ivy: The First Professor of Plastic Surgery and Cleft Palate Surgery Pioneer
Alexander H Chang, Adam Walchak, John D Potochny, Sameer A Patel
Cureus. 2024 Oct; 16(10): e71723. Published online 2024 Oct 17. doi: 10.7759/cureus.71723
PMCID:
PMC11568863
ArticlePDF–5.0M

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