PMC Articles for MedGen (Select 382526) - PMC

Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza

Int J Mol Sci. 2023 Feb; 24(4): 4028. Published online 2023 Feb 16. doi: 10.3390/ijms24044028

PMCID:: PMC9965077

Abstract Article PDF–3.4M

Select item 95599064.

Focal Dermal Hypoplasia with Osteopathia Striata

Shefa S. Almashaqbeh, Diana S. Aljammal, Hend M. Alharahsheh, Samer F. Alqudah, Rana A. Alkrimeen

Med Arch. 2022 Aug; 76(4): 301–304. doi: 10.5455/medarh.2022.76.301-304

PMCID:: PMC9559906

Abstract Article PDF–277K

Select item 93147005.

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

Marina Michelson, Gabriel Lidzbarsky, Daniella Nishri, Ifat Israel‐Elgali, Rachel Berger, Michal Gafner, Noam Shomron, Dorit Lev, Yael Goldberg

Am J Med Genet A. 2022 Jul; 188(7): 1990–1996. Published online 2022 Mar 21. doi: 10.1002/ajmg.a.62730

PMCID:: PMC9314700

Abstract Article PDF–3.0M

Select item 90009316.

Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

Cheng Zhou, Pei Wang, Dingquan Yang, Wenjun Liao, Qing Guo, Jiacheng Li, Guangdong Wen, Shuying Zheng, Xue Zhang, Rongrong Wang, Jianzhong Zhang

Mol Genet Genomic Med. 2022 Apr; 10(4): e1889. Published online 2022 Feb 11. doi: 10.1002/mgg3.1889

PMCID:: PMC9000931

Abstract Article PDF–1.4M

Select item 88871897.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy

Orphanet J Rare Dis. 2022; 17: 86. Published online 2022 Feb 28. doi: 10.1186/s13023-022-02248-2

PMCID:: PMC8887189

Abstract Article PDF–2.7M

Select item 88007258.

淋巴水肿-双行睫综合征一家系遗传学及临床表型分析

Gang HU, Bei LIU, Min CHEN, Yeqing QIAN, Minyue DONG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25; 49(5): 581–585. Chinese. doi: 10.3785/j.issn.1008-9292.2020.10.05

PMCID:: PMC8800725

Abstract Article PDF–2.7M

Select item 85682119.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

Siham Chafai Elalaoui, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, Abdelaziz Sefiani

Afr Health Sci. 2021 Jun; 21(2): 960–967. doi: 10.4314/ahs.v21i2.58

PMCID:: PMC8568211

Abstract Article PDF–379K

Select item 855512910.

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee

BMC Med Genomics. 2021; 14: 254. Published online 2021 Oct 27. doi: 10.1186/s12920-021-01104-9

PMCID:: PMC8555129

Abstract Article PDF–767K

Select item 851514111.

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review

Ran Li, Bowen Tian, Hanting Liang, Meiping Chen, Hongbo Yang, Linjie Wang, Hui Pan, Huijuan Zhu

Front Endocrinol (Lausanne) 2021; 12: 604500. Published online 2021 Sep 30. doi: 10.3389/fendo.2021.604500

PMCID:: PMC8515141

Abstract Article PDF–712K

Select item 815651112.

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem

Genes (Basel) 2021 May; 12(5): 748. Published online 2021 May 17. doi: 10.3390/genes12050748

PMCID:: PMC8156511

Abstract Article PDF–2.9M

Select item 814686813.

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

Sara Missaglia, Daniela Tavian, Sandro Michelini, Paolo Enrico Maltese, Andrea Bonanomi, Matteo Bertelli

Genes (Basel) 2021 May; 12(5): 650. Published online 2021 Apr 27. doi: 10.3390/genes12050650

PMCID:: PMC8146868

Abstract Article PDF–16M

Select item 810416314.

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke

Mol Genet Genomic Med. 2021 Mar; 9(3): e1607. Published online 2021 Jan 20. doi: 10.1002/mgg3.1607

PMCID:: PMC8104163

Abstract Article PDF–814K

Select item 808861315.

Ocular manifestations of ectodermal dysplasia

Daphna Landau Prat, William R. Katowitz, Alanna Strong, James A. Katowitz

Orphanet J Rare Dis. 2021; 16: 197. Published online 2021 May 1. doi: 10.1186/s13023-021-01824-2

PMCID:: PMC8088613

Abstract Article PDF–1.1M

Select item 792289116.

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells

Noe E. Crespo, Alexandra Torres-Bracero, Jessicca Y. Renta, Robert J. Desnick, Carmen L. Cadilla

Int J Environ Res Public Health. 2021 Feb; 18(4): 1997. Published online 2021 Feb 19. doi: 10.3390/ijerph18041997

PMCID:: PMC7922891

Abstract Article PDF–66M

Select item 770623117.

Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses

E. A. Hisey, H. Hermans, Z. T. Lounsberry, F. Avila, R. A. Grahn, K. E. Knickelbein, S. A. Duward-Akhurst, M. E. McCue, T.S. Kalbfleisch, M. E. Lassaline, W. Back, R. R. Bellone

BMC Genomics. 2020; 21: 848. Published online 2020 Nov 30. doi: 10.1186/s12864-020-07265-8

PMCID:: PMC7706231

Abstract Article PDF–2.0M

Select item 747358118.

Clinical and molecular spectrum of CHOPS syndrome

Sarah E. Raible, Devanshi Mehta, Chiara Bettale, Sarah Fiordaliso, Maninder Kaur, Livija Medne, Marlene Rio, Eric Haan, Susan M. White, Kristina Cusmano-Ozog, Eriko Nishi, Yiran Guo, Honglin Wu, Xiaoqing Shi, Qingjie Zhao, Xueqin Zhang, Qi Lei, Aimei Lu, Xiyu He, Nobuhiko Okamoto, Noriko Miyake, Joseph Piccione, Julian Allen, Naomichi Matsumoto, Mary Pipan, Ian D. Krantz, Kosuke Izumi

Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 4.

Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1126–1138. Published online 2019 May 6. doi: 10.1002/ajmg.a.61174

PMCID:: PMC7473581

Abstract Article PDF–2.2M

Select item 740414619.

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

Daniela Tavian, Sara Missaglia, Sandro Michelini, Paolo Enrico Maltese, Elena Manara, Alvaro Mordente, Matteo Bertelli

Int J Mol Sci. 2020 Jul; 21(14): 5112. Published online 2020 Jul 20. doi: 10.3390/ijms21145112

PMCID:: PMC7404146

Abstract Article PDF–7.1M

Select item 738906120.

2例Cornelia de Lange综合征患儿NIPBL基因突变研究

赵云静, 麻宏伟

Zhongguo Dang Dai Er Ke Za Zhi. 2018 May 25; 20(5): 387–391. Chinese. doi: 10.7499/j.issn.1008-8830.2018.05.010

PMCID:: PMC7389061

Abstract Article PDF–953K

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PMC Articles for MedGen (Select 382526) (49)
PMC
RecName: Full=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLa...
RecName: Full=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; AltName: Full=Adenylate cyclase-stimulating G alpha protein; AltName: Full=Extra large alphas protein; Short=XLalphas
gi|116248089|sp|Q5JWF2.2|GNAS1_HUMA

Protein
EST234459 Normalized rat spleen, Bento Soares Rattus sp. cDNA clone RSPCT95 3' e...
EST234459 Normalized rat spleen, Bento Soares Rattus sp. cDNA clone RSPCT95 3' end, mRNA sequence
gi|3831403|gnl|dbEST|2010702|gb|AI2 .1|

Nucleotide
Lig4 DNA ligase 4 [Rattus norvegicus]
Lig4 DNA ligase 4 [Rattus norvegicus]
Gene ID:290907

Gene

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