PMC Articles for MedGen (Select 784514) - PMC

Select item 109066941.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Article PDF–406K

Select item 85776752.

Factors relating to bone mineral density in young and middle-aged patients with ankylosing spondylitis

Xin Wu, Jia-Yun Zhong, Geng Wang, Hu-ji Xu

Chin Med J (Engl) 2021 Nov 5; 134(21): 2556–2563. Published online 2021 Oct 13. doi: 10.1097/CM9.0000000000001787

PMCID:: PMC8577675

Article PDF–750K

Select item 69981583.

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

Mervyn G Thomas, Gail D E Maconachie, Cris S Constantinescu, Wai-Man Chan, Brenda Barry, Michael Hisaund, Viral Sheth, Helen J Kuht, Rob A Dineen, Sreemathi Harieaswar, Elizabeth C Engle, Irene Gottlob

Br J Ophthalmol. 2020 Apr; 104(4): 547–550. Published online 2019 Jul 13. doi: 10.1136/bjophthalmol-2019-314293

PMCID:: PMC6998158

Article PDF–866K

Select item 61230334.

Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium–glucose cotransporter 2 inhibitor

Tetsushi Hamaguchi, Yushi Hirota, Takehito Takeuchi, Yasushi Nakagawa, Atsuko Matsuoka, Masaaki Matsumoto, Hiroyuki Awano, Kazumoto Iijima, Pei Chieng Cha, Wataru Satake, Tatsushi Toda, Wataru Ogawa

J Diabetes Investig. 2018 Sep; 9(5): 1224–1227. Published online 2018 Mar 25. doi: 10.1111/jdi.12825

PMCID:: PMC6123033

Article PDF–752K

Select item 54933865.

Robinow syndrome: report of two patients and review of literature

Merlin G. Butler, William B. Wadlington

Clin Genet. Author manuscript; available in PMC 2017 Jun 30.

Published in final edited form as: Clin Genet. 1987 Feb; 31(2): 77–85. doi: 10.1111/j.1399-0004.1987.tb02773.x

PMCID:: PMC5493386

Article PDF–1.1M

Select item 53519376.

Functional gains in energy and cell metabolism after TSPO gene insertion

Guo-Jun Liu, Ryan J. Middleton, Winnie Wai-Ying Kam, David Y. Chin, Claire R. Hatty, Ronald H. Y. Chan, Richard B. Banati

Cell Cycle. 2017; 16(5): 436–447. Published online 2017 Jan 19. doi: 10.1080/15384101.2017.1281477

PMCID:: PMC5351937

Article PDF–1.0M

Select item 46030837.

Vascular Ehlers-Danlos Syndrome Without the Characteristic Facial Features: A Case Report

Ryota Inokuchi, Hideaki Kurata, Kiyoshi Endo, Yoichi Kitsuta, Susumu Nakajima, Atsushi Hatamochi, Naoki Yahagi

Medicine (Baltimore) 2014 Dec; 93(28): e291. Published online 2014 Dec 2. doi: 10.1097/MD.0000000000000291

PMCID:: PMC4603083

Article PDF–241K

Select item 39251348.

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria, Daniela Melis

BMC Med Genet. 2014; 15: 15. Published online 2014 Jan 28. doi: 10.1186/1471-2350-15-15

PMCID:: PMC3925134

Article PDF–366K

Select item 38654029.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono, Sarah H Elsea

Eur J Hum Genet. 2014 Jan; 22(1): 57–63. Published online 2013 May 1. doi: 10.1038/ejhg.2013.67

PMCID:: PMC3865402

Article PDF–843K

Select item 337648710.

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Lia Abbasi-Moheb, Sara Mertel, Melanie Gonsior, Leyla Nouri-Vahid, Kimia Kahrizi, Sebahattin Cirak, Dagmar Wieczorek, M. Mahdi Motazacker, Sahar Esmaeeli-Nieh, Kirsten Cremer, Robert Weißmann, Andreas Tzschach, Masoud Garshasbi, Seyedeh S. Abedini, Hossein Najmabadi, H. Hilger Ropers, Stephan J. Sigrist, Andreas W. Kuss

Am J Hum Genet. 2012 May 4; 90(5): 847–855. doi: 10.1016/j.ajhg.2012.03.021

PMCID:: PMC3376487

Article PDF–567K

Select item 259795311.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Farah Zahir, Helen V Firth, Agnes Baross, Allen D Delaney, Patrice Eydoux, William T Gibson, Sylvie Langlois, Howard Martin, Lionel Willatt, Marco A Marra, Jan M Friedman

J Med Genet. 2007 Sep; 44(9): 556–561. Published online 2007 Jun 1. doi: 10.1136/jmg.2007.050823

PMCID:: PMC2597953

Article PDF–728K

Select item 105167212.

Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.

P Salo, J Ignatius, K O Simola, E Tahvanainen, H Kääriäinen

J Med Genet. 1995 Sep; 32(9): 711–715. doi: 10.1136/jmg.32.9.711

PMCID:: PMC1051672

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