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Select item 26949731.

Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia

Miao Sun, Ning Li, Wu Dong, Zugen Chen, Qing Liu, Yiming Xu, Guang He, Yongyong Shi, Xin Li, Jiajie Hao, Yang Luo, Dandan Shang, Dan Lv, Fen Ma, Dai Zhang, Rui Hua, Chaoxia Lu, Yaran Wen, Lihua Cao, Alan D. Irvine, W.H. Irwin McLean, Qi Dong, Ming-Rong Wang, Jun Yu, Lin He, Wilson H.Y. Lo, Xue Zhang

Am J Hum Genet. 2009 Jun 12; 84(6): 807–813. doi: 10.1016/j.ajhg.2009.04.018

PMCID:: PMC2694973

Abstract Article PDF–722K

Select item 40224632.

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

Gina M. DeStefano, Mazen Kurban, Kwame Anyane-Yeboa, Claudia Dall'Armi, Gilbert Di Paolo, Heather Feenstra, Nanette Silverberg, Luis Rohena, Larissa D. López-Cepeda, Vaidehi Jobanputra, Katherine A. Fantauzzo, Maija Kiuru, Marija Tadin-Strapps, Antonio Sobrino, Anna Vitebsky, Dorothy Warburton, Brynn Levy, Julio C. Salas-Alanis, Angela M. Christiano

PLoS Genet. 2014 May; 10(5): e1004333. Published online 2014 May 15. doi: 10.1371/journal.pgen.1004333

PMCID:: PMC4022463

Abstract Article PDF–6.7M

Select item 45024773.

Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association

Aditya Kumar Bubna, Mahalakshmi Veeraraghavan, Sankarasubramaniam Anandan, Sudha Rangarajan

Int J Trichology. 2015 Apr-Jun; 7(2): 67–71. doi: 10.4103/0974-7753.160113

PMCID:: PMC4502477

Abstract Article

Select item 111274184.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng

BMC Med Genomics. 2024; 17: 142. Published online 2024 May 24. doi: 10.1186/s12920-024-01904-9

PMCID:: PMC11127418

Abstract Article PDF–1.8M

Select item 109702215.

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient

Maria Natalia Rojas Velazquez, Fabiola Blanco, Ana Ayala-Lugo, Lady Franco, Valerie Jolly, Denisse Di Tore, Idoia Martínez de Lapiscina, Marco Janner, Christa E. Flück, Amit V. Pandey

Int J Mol Sci. 2024 Mar; 25(6): 3143. Published online 2024 Mar 8. doi: 10.3390/ijms25063143

PMCID:: PMC10970221

Abstract Article PDF–2.9M

Select item 109528336.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant

Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith‐Rae Dias, Krystle Standen, Carey‐Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung‐Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding‐Byth, Bekim Sadikovic, Jason Pinner, Michael F. Buckley, Tony Roscioli

Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3): e32056. Published online 2023 Aug 31. doi: 10.1002/ajmg.c.32056

PMCID:: PMC10952833

Abstract Article PDF–1.9M

Select item 109480357.

Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother

Serkan Bilge Koca, Melike Ataseven Kulali, Başak Güğüş, Hüseyin Demirbilek

Arch Endocrinol Metab. 2024; 68: e210305. Published online 2024 Jan 29. doi: 10.20945/2359-4292-2021-0305

PMCID:: PMC10948035

Abstract Article PDF–339K

Select item 108881668.

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes

Genes (Basel) 2024 Feb; 15(2): 211. Published online 2024 Feb 6. doi: 10.3390/genes15020211

PMCID:: PMC10888166

Abstract Article PDF–623K

Select item 107318659.

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

Falastine Daas, Punita Gupta, Fuad Kiblawi

BMC Pediatr. 2023; 23: 644. Published online 2023 Dec 19. doi: 10.1186/s12887-023-04446-8

PMCID:: PMC10731865

Abstract Article PDF–1.0M

Select item 1063390010.

Ligneous periodontitis exacerbated by Behçet’s disease in a patient with plasminogen deficiency and a stop-gained variant PLG c.1468C > T: a case report

Yuki Shinoda-Ito, Anna Hirai, Kazuhiro Omori, Hidetaka Ideguchi, Hideki Yamamoto, Fumino Kato, Kyoichi Obata, Tatsuo Ogawa, Keisuke Nakano, Takato Nakadoi, Eri Katsuyama, Soichiro Ibaragi, Tadashi Yamamoto, Hitoshi Nagatsuka, Akira Hirasawa, Shogo Takashiba

BMC Oral Health. 2023; 23: 843. Published online 2023 Nov 8. doi: 10.1186/s12903-023-03586-8

PMCID:: PMC10633900

Abstract Article PDF–10M

Select item 1052266311.

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

Jianfan Chen, Xueqing Xu, Song Chen, Ting Lu, Yingchun Zheng, Zhongzhi Gan, Zongrui Shen, Shunfei Ma, Duocai Wang, Leyi Su, Fei He, Xuan Shang, Huiyong Xu, Dong Chen, Leitao Zhang, Fu Xiong

Int J Oral Sci. 2023; 15: 46. Published online 2023 Sep 26. doi: 10.1038/s41368-023-00244-1

PMCID:: PMC10522663

Abstract Article PDF–5.9M

Select item 1045107212.

H syndrome treated with Tocilizumab: two case reports and literature review

Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Maël Richard, Yvan Jamilloux, Florent Rousset, Jean-François Emile, Julien Haroche, Lars Steinmüller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve

Front Immunol. 2023; 14: 1061182. Published online 2023 Aug 11. doi: 10.3389/fimmu.2023.1061182

PMCID:: PMC10451072

Abstract Article PDF–5.2M

Select item 1044855713.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Özbek

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 329–333. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2022.2022-1-25

PMCID:: PMC10448557

Abstract Article PDF–612K

Select item 1044855214.

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 312–317. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2021.2021.0256

PMCID:: PMC10448552

Abstract Article PDF–412K

Select item 1032269115.

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, REACH Biobank and Registry, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda

JCI Insight. 2023 May 22; 8(10): e167744. Published online 2023 May 22. doi: 10.1172/jci.insight.167744

PMCID:: PMC10322691

Abstract Article PDF–7.1M

Select item 990559016.

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9

Jian Gao, Conor McClenaghan, Imke Christiaans, Marielle Alders, Kirsten van Duinen, Mieke M. van Haelst, Gijs van Haaften, Colin G. Nichols

Eur J Hum Genet. 2023 Feb; 31(2): 188–194. Published online 2022 Nov 7. doi: 10.1038/s41431-022-01210-x

PMCID:: PMC9905590

Abstract Article PDF–2.4M

Select item 990506317.

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D’Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Gos, Sylwia Rzońca-Niewczas, Maria Giuseppina Miano, Alessandra Murgia

Eur J Hum Genet. 2023 Feb; 31(2): 202–215. Published online 2022 Nov 25. doi: 10.1038/s41431-022-01233-4

PMCID:: PMC9905063

Abstract Article PDF–1.5M

Select item 985906318.

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis

Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D’Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo

Genes (Basel) 2023 Jan; 14(1): 119. Published online 2023 Jan 1. doi: 10.3390/genes14010119

PMCID:: PMC9859063

Abstract Article PDF–1.7M

Select item 979882019.

A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome

Gautam K. Singh, Conor McClenaghan, Manish Aggarwal, Hongjie Gu, Maria S. Remedi, Dorothy K. Grange, Colin G. Nichols

J Am Heart Assoc. 2022 Dec 20; 11(24): e027363. Published online 2022 Dec 14. doi: 10.1161/JAHA.122.027363

PMCID:: PMC9798820

Abstract Article PDF–1.5M

Select item 976499020.

ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle

Soma S. Singareddy, Helen I. Roessler, Conor McClenaghan, Jennifer M. Ikle, Robert C. Tryon, Gijs van Haaften, Colin G. Nichols

J Physiol. Author manuscript; available in PMC 2022 Dec 20.

Published in final edited form as: J Physiol. 2022 Jan; 600(2): 299–312. Published online 2021 Dec 12. doi: 10.1113/JP282157

PMCID:: PMC9764990

Abstract Article PDF–1.7M

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