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Select item 109373651.

A comparative retrospective analysis: myocutaneous flap versus skin flap in V-Y medial epicanthal fold reconstruction

Bulin Wang, Shengchang Zhang, Yi Chen, Zhihong Liu, Jiangang Yu, Huimin Zhou, Er Pan

Front Surg. 2024; 11: 1335796. Published online 2024 Feb 29. doi: 10.3389/fsurg.2024.1335796

PMCID:: PMC10937365

Article PDF–30M

Select item 108949582.

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome

Mingyu Zhao, Xiaolu Meng, Jiaqi Wang, Tailing Wang

Front Genet. 2024; 15: 1343411. Published online 2024 Feb 12. doi: 10.3389/fgene.2024.1343411

PMCID:: PMC10894958

Article PDF–1.8M

Select item 107681543.

De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report

Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, Farhad Jeddi

J Med Case Rep. 2024; 18: 4. Published online 2024 Jan 5. doi: 10.1186/s13256-023-04237-w

PMCID:: PMC10768154

Article PDF–1.3M

Select item 107496744.

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly

Qin Shen, Xiaojun Zhao, Yongrong Ji, Peiwei Chai

J Craniofac Surg. 2024 Jan-Feb; 35(1): e52–e56. Published online 2023 Nov 8. doi: 10.1097/SCS.0000000000009801

PMCID:: PMC10749674

Article PDF–411K

Select item 106581745.

Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder

Sharanya P Deshmukh, Natario L Couser

Int J Mol Epidemiol Genet. 2023; 14(3): 34–41. Published online 2023 Oct 15.

PMCID:: PMC10658174

Article PDF–1.1M

Select item 106290096.

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

Zhi-Bo Lin, Zhen-Ji Chen, Hui Yang, Xing-Ru Ding, Jin Li, An-Peng Pan, Hai-Sen Sun, A.-Yong Yu, Shi-Hao Chen

BMC Ophthalmol. 2023; 23: 446. Published online 2023 Nov 7. doi: 10.1186/s12886-023-03189-5

PMCID:: PMC10629009

Article PDF–1.5M

Select item 103652517.

Cosmetic outcomes of epicanthoplasty for epicanthus tarsalis

Dalal R. Fatani, Omar S. Alsuhaibani, Adel H. Alsuhaibani

Saudi J Ophthalmol. 2023 Apr-Jun; 37(2): 94–99. Published online 2023 Mar 8. doi: 10.4103/sjopt.sjopt_54_22

PMCID:: PMC10365251

Article PDF–1.0M

Select item 102675648.

Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH

Özlem Anlaş, Akgün Ölmez, Birsen Karaman, Füsun Düzcan, Selçuk Yüksel, Funda Tümkaya, Gülseren Bağcı, Cavidan Nur Semerci Gündüz

Mol Syndromol. 2023 Jun; 14(3): 246–253. Published online 2023 Feb 1. doi: 10.1159/000527160

PMCID:: PMC10267564

Article PDF–526K

Select item 101721009.

Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome

Yu-Cheng Yan, Lu Zhou, Jin-Cai Fan

Int J Ophthalmol. 2023; 16(5): 680–686. Published online 2023 May 18. doi: 10.18240/ijo.2023.05.02

PMCID:: PMC10172100

Article PDF–1.6M

Select item 1013990010.

Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children

Volkan Kizilkaya, Sami Engin, Ali Tunc, Alparslan Tonbul

Int J Surg Case Rep. 2023 May; 106: 108179. Published online 2023 Apr 12. doi: 10.1016/j.ijscr.2023.108179

PMCID:: PMC10139900

Article PDF–407K

Select item 1009997011.

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin

Am J Med Genet A. 2023 Feb; 191(2): 526–539. Published online 2022 Nov 25. doi: 10.1002/ajmg.a.63057

PMCID:: PMC10099970

Article PDF–2.4M

Select item 1006538812.

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

Jéssica Silva Soares, Renata Maria Rabello da Silva Lago, Maria Betânia Pereira Toralles, Laís Ribeiro Mota, Esmeralda Santos Alves, Acácia Fernandes Lacerda de Carvalho

Arch Endocrinol Metab. 2021; 65(6): 739–746. Published online 2021 Nov 11. doi: 10.20945/2359-3997000000403

PMCID:: PMC10065388

Article PDF–351K

Select item 1006021613.

Oculo-dento-digital dysplasia: a systematic analysis of published dental literature

Karshma Devi Hindu, Fahad Umer

BDJ Open. 2023; 9: 13. Published online 2023 Mar 29. doi: 10.1038/s41405-023-00139-7

PMCID:: PMC10060216

Article PDF–1.7M

Select item 1002462114.

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

Deepa Banker, Bhavdeep Mungala, Zankhana Parekh, Shachi Ganatra, Vimal Maheshwari, Yashica Raj, Utsav Patel, Digant Patel, Kishan Chamar, Vasu Solanki

Case Rep Pediatr. 2023; 2023: 2275582. Published online 2023 Mar 11. doi: 10.1155/2023/2275582

PMCID:: PMC10024621

Article PDF–1.2M

Select item 998677415.

The timely diagnosis of 49, XXXXY with the combined detection of MLPA, karyotype, and QF-PCR in a newborn with multiple congenital malformations: a case report

Baodong Tian, Lijie Chen, Wenjuan Wang, Ying Tang, Donglan Yu, Yong Zhou, Guangli Wang, Yang Xia, Chunjiang Zhu

Transl Pediatr. 2023 Feb 28; 12(2): 301–307. Published online 2023 Feb 21. doi: 10.21037/tp-23-23

PMCID:: PMC9986774

Article PDF–966K

Select item 994035316.

Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh

Hum Genomics. 2023; 17: 12. Published online 2023 Feb 20. doi: 10.1186/s40246-023-00460-0

PMCID:: PMC9940353

Article PDF–1.0M

Select item 993029217.

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

Wei Luo, Hanni Ke, Shuyan Tang, Xue Jiao, Zhuqing Li, Shidou Zhao, Feng Zhang, Ting Guo, Yingying Qin

J Ovarian Res. 2023; 16: 39. Published online 2023 Feb 15. doi: 10.1186/s13048-023-01104-6

PMCID:: PMC9930292

Article PDF–1.2M

Select item 983280718.

Minimal lower eyelid epicanthoplasty combined with thermal contraction to treat epiblepharon in chinese children

Shoulong Hu, Jingyi Li, Yuebing Lu, Shengnan Zhao, Yi Shao

BMC Ophthalmol. 2023; 23: 18. Published online 2023 Jan 10. doi: 10.1186/s12886-022-02763-7

PMCID:: PMC9832807

Article PDF–1.3M

Select item 980154719.

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Giusy Morgante, Ettore Piro, Roberto Pirrello, Sergio Salerno, Ingrid Anne Mandy Schierz, Vincenzo Verde, Giovanni Corsello

Ital J Pediatr. 2022; 48: 206. Published online 2022 Dec 29. doi: 10.1186/s13052-022-01403-6