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Select item 40162611.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Aurore Curie, Tatjana Nazir, Amandine Brun, Yves Paulignan, Anne Reboul, Karine Delange, Anne Cheylus, Sophie Bertrand, Fanny Rochefort, Gérald Bussy, Stéphanie Marignier, Didier Lacombe, Catherine Chiron, Mireille Cossée, Bruno Leheup, Christophe Philippe, Vincent Laugel, Anne De Saint Martin, Silvia Sacco, Karine Poirier, Thierry Bienvenu, Isabelle Souville, Brigitte Gilbert-Dussardier, Eric Bieth, Didier Kauffmann, Philippe Briot, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Caroline Rooryck-Thambo, Isabelle Mortemousque, Isabelle Bobillier-Chaumont, Annick Toutain, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Sonya Freeman, Jian Kong, Nouchine Hadjikhani, Randy L Gollub, Alice Roy, Vincent des Portes

Orphanet J Rare Dis. 2014; 9: 25. Published online 2014 Feb 14. doi: 10.1186/1750-1172-9-25

PMCID:: PMC4016261

Abstract Article PDF–2.9M

Select item 32795872.

Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations

Ginam Cho, MacLean P. Nasrallah, Youngshin Lim, Jeffrey A Golden

Neurogenetics. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Neurogenetics. 2012 Feb; 13(1): 23–29. Published online 2012 Jan 18. doi: 10.1007/s10048-011-0304-7

PMCID:: PMC3279587

Abstract Article PDF–1.1M

Select item 63256453.

A COMPREHENSIVE CLINICAL AND GENETIC STUDY IN 127 PATIENTS WITH ID IN KINSHASA, DR CONGO

Aimé Lumaka, Valerie Race, Hilde Peeters, Anniek Corveleyn, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Song Xiaofei, Gerrye Mubungu, Jennifer Posey, James R Lupski, Joris R Vermeesch, Prosper Lukusa, Koenraad Devriendt

Am J Med Genet A. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Am J Med Genet A. 2018 Sep; 176(9): 1897–1909. Published online 2018 Aug 8. doi: 10.1002/ajmg.a.40382

PMCID:: PMC6325645

Abstract Article PDF–906K

Select item 108457474.

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu

Hereditas. 2024; 161: 8. Published online 2024 Feb 6. doi: 10.1186/s41065-024-00312-4

PMCID:: PMC10845747

Abstract Article PDF–1.6M

Select item 106880505.

Changes of gut microbiota and short chain fatty acids in patients with Peutz–Jeghers syndrome

An Zhou, Bo Tang, Yuhong Xie, Shengpeng Li, Xu Xiao, Lingyi Wu, Dianji Tu, Sumin Wang, Yunxuan Feng, Xiaojie Feng, Yi Lai, Shoubin Ning, Shiming Yang

BMC Microbiol. 2023; 23: 373. Published online 2023 Nov 30. doi: 10.1186/s12866-023-03132-0

PMCID:: PMC10688050

Abstract Article PDF–4.9M

Select item 104029636.

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report

Yue Yang, Nan Jiang, Jing Qun Mai, Shuo Yang, Yuanyuan Xiao, Shanling Liu

Medicine (Baltimore) 2023 Aug 4; 102(31): e34448. Published online 2023 Aug 4. doi: 10.1097/MD.0000000000034448

PMCID:: PMC10402963

Abstract Article PDF–862K

Select item 103317157.

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2

Min Guo, Qing Li, Chaowu Jiang, Shuling Li, Biao Ruan

J Int Adv Otol. 2023 May; 19(3): 255–259. Published online 2023 May 1. doi: 10.5152/iao.2023.22745

PMCID:: PMC10331715

Abstract Article PDF–3.0M

Select item 102982148.

Inherited Reticulate Pigmentary Disorders

Min-Huei Lin, Pei-Chen Chou, I-Chen Lee, Syuan-Fei Yang, Hsin-Su Yu, Sebastian Yu

Genes (Basel) 2023 Jun; 14(6): 1300. Published online 2023 Jun 20. doi: 10.3390/genes14061300

PMCID:: PMC10298214

Abstract Article PDF–754K

Select item 102944179.

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV

Yanan Wang, Yuqiong Chai, Pai Zhang, Weiwei Zang

BMC Med Genomics. 2023; 16: 147. Published online 2023 Jun 26. doi: 10.1186/s12920-023-01572-1

PMCID:: PMC10294417

Abstract Article PDF–1.2M

Select item 1005758410.

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines

Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova, Hiroko Fukamatsu, Takenobu Yamamoto, Yumi Aoyama, Polina Golikova, Gavril Moskvitin, Roza Ivanova, Mira Savvina, Filipp Vasilev, Takahito Moriwaki, Seigo Terawaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo

Int J Mol Sci. 2023 Mar; 24(6): 5647. Published online 2023 Mar 15. doi: 10.3390/ijms24065647

PMCID:: PMC10057584

Abstract Article PDF–1.5M

Select item 990108311.

A case report and literature review of Carney complex with atrial adenomyxoma

Jing Xu, Meng Ye, Po Li, Shujing Xu, Miao Zhang, Lixin Shi, Juan He

BMC Endocr Disord. 2023; 23: 35. Published online 2023 Feb 6. doi: 10.1186/s12902-023-01285-7

PMCID:: PMC9901083

Abstract Article PDF–1.6M

Select item 980855612.

Two mutations in the SBDS gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms

María Noel Spangenberg, Sofia Grille, Camila Simoes, Nicolás Dell'Oca, Matilde Boada, Cecilia Guillermo, Victor Raggio, Lucía Spangenberg

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006237. doi: 10.1101/mcs.a006237

PMCID:: PMC9808556

Abstract Article PDF–1.8M

Select item 954378513.

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

Céline B. Gerber, Anna Fliedner, Oliver Bartsch, Siren Berland, Malin Dewenter, Marte Haug, Ian Hayes, Purificacion Marin‐Reina, Paul R. Mark, Francisco Martinez‐Castellano, Isabelle Maystadt, Deniz Karadurmus, Katharina Steindl, Antje Wiesener, Markus Zweier, Heinrich Sticht, Christiane Zweier

Clin Genet. 2022 Sep; 102(3): 182–190. Published online 2022 Jun 14. doi: 10.1111/cge.14173

PMCID:: PMC9543785

Abstract Article PDF–1.5M

Select item 925806714.

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report

Li Zhang, Yue Wan, Ningli Wang

J Med Case Rep. 2022; 16: 264. Published online 2022 Jul 6. doi: 10.1186/s13256-022-03460-1

PMCID:: PMC9258067

Abstract Article PDF–2.4M

Select item 922248815.

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review

Muhammad Ikram Ullah

Genes (Basel) 2022 Jun; 13(6): 1072. Published online 2022 Jun 16. doi: 10.3390/genes13061072

PMCID:: PMC9222488

Abstract Article PDF–1.0M

Select item 905567916.

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

Yuanyuan Xiao, Cong Zhou, Hanbing Xie, Shuang Huang, Jing Wang, Shanling Liu

BMC Genomics. 2022; 23: 332. Published online 2022 Apr 29. doi: 10.1186/s12864-022-08597-3

PMCID:: PMC9055679

Abstract Article PDF–3.0M

Select item 895347117.

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Michele Callea, Diego Martinelli, Francisco Cammarata-Scalisi, Chiara Grimaldi, Houweyda Jilani, Piercesare Grimaldi, Colin Eric Willoughby, Antonino Morabito

Genes (Basel) 2022 Mar; 13(3): 496. Published online 2022 Mar 11. doi: 10.3390/genes13030496

PMCID:: PMC8953471

Abstract Article PDF–290K

Select item 880243818.

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz

Orphanet J Rare Dis. 2022; 17: 29. Published online 2022 Jan 31. doi: 10.1186/s13023-021-02068-w

PMCID:: PMC8802438

Abstract Article PDF–2.3M

Select item 863088019.

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm

Sarah E. Sheppard, Anna Smith, Katheryn Grand, Jennifer Pogoriler, Adam I. Rubin, Erica Schindewolf, Mark P. Fitzgerald, Julie Moldenhauer, Pablo Laje, William Peranteau, Elizabeth Bhoj, Patrick McMahon, Leslie Castelo-Soccio

Am J Med Genet A. Author manuscript; available in PMC 2021 Nov 30.

Published in final edited form as: Am J Med Genet A. 2020 Apr; 182(4): 746–754. Published online 2020 Jan 21. doi: 10.1002/ajmg.a.61490

PMCID:: PMC8630880

Abstract Article PDF–522K

Select item 855241920.

Case Report: An Atypical Case of Carney Complex

Zulqarnain Khan, Hani Alkhatib, Gautam V. Ramani

Am J Case Rep. 2021; 22: e933744-1–e933744-7. Published online 2021 Oct 24. doi: 10.12659/AJCR.933744

PMCID:: PMC8552419

Abstract Article PDF–966K

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