PMC Articles for MedGen (Select 394534) - PMC

A J Mears, T Jordan, F Mirzayans, S Dubois, T Kume, M Parlee, R Ritch, B Koop, W L Kuo, C Collins, J Marshall, D B Gould, W Pearce, P Carlsson, S Enerbäck, J Morissette, S Bhattacharya, B Hogan, V Raymond, M A Walter

Am J Hum Genet. 1998 Nov; 63(5): 1316–1328. doi: 10.1086/302109

PMCID:: PMC1377542

Summary PDF–1.7M

Select item 95095906.

Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report

Lin Zhou, Zhike Xu, Qianying Wu, Xin Wei

BMC Ophthalmol. 2022; 22: 385. Published online 2022 Sep 24. doi: 10.1186/s12886-022-02573-x

PMCID:: PMC9509590

Article PDF–1.5M

Select item 92644927.

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report

Angela Pia Cazzolla, Nunzio Francesco Testa, Francesca Spirito, Michele Di Cosola, Alessandra Campobasso, Vito Crincoli, Andrea Ballini, Stefania Cantore, Domenico Ciavarella, Lorenzo Lo Muzio, Mario Dioguardi

Head Face Med. 2022; 18: 25. Published online 2022 Jul 8. doi: 10.1186/s13005-022-00329-y

PMCID:: PMC9264492

Article PDF–1.1M

Select item 85048978.

Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up

Xiaofei Yin, Jidong Liu, Ruiying Feng, Mingyue Xu, Jinbo Liu

J Diabetes Investig. 2021 Oct; 12(10): 1919–1922. Published online 2021 Apr 7. doi: 10.1111/jdi.13549

PMCID:: PMC8504897

Article PDF–421K

Select item 82204079.

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Chunyan Wang, Verena Klämbt, Steve Seltzsam, Ethan W. Lai, Aravind Selvin, Prabha Senguttuva, Olaf Bodamer, Deborah R. Stein, Sherif El Desoky, Jameela A. Kari, Velibor Tasic, Stuart B. Bauer, Shirlee Shril, Friedhelm Hildebrandt

Genet Med. Author manuscript; available in PMC 2021 Jun 23.

Published in final edited form as: Genet Med. 2020 Oct; 22(10): 1673–1681. Published online 2020 Jun 1. doi: 10.1038/s41436-020-0844-z

PMCID:: PMC8220407

Article PDF–995K

Select item 800866910.

Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

Kinga Gołaszewska, Natalia Dub, Emil Saeed, Zofia Mariak, Joanna Konopińska

BMC Ophthalmol. 2021; 21: 154. Published online 2021 Mar 29. doi: 10.1186/s12886-021-01899-2

PMCID:: PMC8008669

Article PDF–3.8M

Select item 760377211.

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang, Xiumin Wang

BMC Med Genet. 2020; 21: 215. Published online 2020 Oct 31. doi: 10.1186/s12881-020-01146-3

PMCID:: PMC7603772

Article PDF–3.2M

Select item 752199012.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma, Saira Yousoof, John R. Grigg, Maree Flaherty, Andre E. Minoche, Mark J. Cowley, Benjamin M. Nash, Gladys Ho, Thet Gayagay, Tiffany Lai, Elizabeth Farnsworth, Emma L. Hackett, Katrina Fisk, Karen Wong, Katherine J. Holman, Gemma Jenkins, Anson Cheng, Frank Martin, Tanya Karaconji, James E. Elder, Annabelle Enriquez, Meredith Wilson, David J. Amor, Chloe A. Stutterd, Benjamin Kamien, John Nelson, Marcel E. Dinger, Bruce Bennetts, Robyn V. Jamieson

Genet Med. 2020; 22(10): 1623–1632. Published online 2020 Jun 5. doi: 10.1038/s41436-020-0854-x

PMCID:: PMC7521990

Article PDF–1006K

Select item 612303313.

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 601455414.

Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes

Marie H. Solheim, Jonathon N. Winnay, Thiago M. Batista, Anders Molven, Pål R. Njølstad, C. Ronald Kahn

Diabetes. 2018 Jul; 67(7): 1297–1309. Published online 2018 May 3. doi: 10.2337/db17-1509

PMCID:: PMC6014554

Article PDF–2.9M

Select item 583998915.

Mutation Update of Transcription Factor Genes FOXE3, HSF4, MAF and PITX3 Causing Cataracts and Other Developmental Ocular Defects

Deepti Anand, Smriti A. Agrawal, Anne Slavotinek, Salil A. Lachke

Hum Mutat. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Hum Mutat. 2018 Apr; 39(4): 471–494. Published online 2018 Jan 16. doi: 10.1002/humu.23395

PMCID:: PMC5839989

Article PDF–2.6M

Select item 582373816.

Congenital Cavitary Optic Disc Anomaly and Axenfeld’s Anomaly in Wolf-Hirschhorn Syndrome: A Case Report and Review of the Literature

Mohsin H. Ali, Nathalie F. Azar, Vinay Aakalu, Felix Y. Chau, Javaneh Abbasian, Pete Setabutr, Irene H. Maumenee

Ophthalmic Genet. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2018 Apr; 39(2): 271–274. Published online 2017 Dec 4. doi: 10.1080/13816810.2017.1408850

PMCID:: PMC5823738

Article PDF–182K

Select item 535060117.

Insights into the pathological mechanisms of p85α mutations using a yeast-based phosphatidylinositol 3-kinase model

María D. Oliver, Teresa Fernández-Acero, Sandra Luna, Isabel Rodríguez-Escudero, María Molina, Rafael Pulido, Víctor J. Cid

Biosci Rep. 2017 Apr 30; 37(2): BSR20160258. Prepublished online 2017 Jan 31. Published online 2017 Mar 15. doi: 10.1042/BSR20160258

PMCID:: PMC5350601

Article PDF–1.4M

Select item 402239818.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco, Carlos López-Otín

BMC Med Genet. 2014; 15: 51. Published online 2014 May 2. doi: 10.1186/1471-2350-15-51

PMCID:: PMC4022398

Article PDF–2.9M

Select item 371075919.

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin-Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila, Judith St-Onge, Martine Le Merrer, Bernard Le Luyer, Delphine Héron, Michèle Mathieu-Dramard, Pierre Bitoun, Jean-Michel Petit, Sylvie Odent, Jeanne Amiel, Damien Picot, Virginie Carmignac, Julien Thevenon, Patrick Callier, Martine Laville, Yves Reznik, Cédric Fagour, Marie-Laure Nunes, Jacqueline Capeau, Olivier Lascols, Frédéric Huet, Laurence Faivre, Corinne Vigouroux, Jean-Baptiste Rivière

Am J Hum Genet. 2013 Jul 11; 93(1): 141–149. doi: 10.1016/j.ajhg.2013.05.019

PMCID:: PMC3710759

Article PDF–799K

Select item 371075820.

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

Kishan Kumar Chudasama, Jonathon Winnay, Stefan Johansson, Tor Claudi, Rainer König, Ingfrid Haldorsen, Bente Johansson, Ju Rang Woo, Dagfinn Aarskog, Jørn V. Sagen, C. Ronald Kahn, Anders Molven, Pål Rasmus Njølstad

Am J Hum Genet. 2013 Jul 11; 93(1): 150–157. doi: 10.1016/j.ajhg.2013.05.023

PMCID:: PMC3710758

Article PDF–1.4M

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