PMC Articles for MedGen (Select 355948) - PMC

Select item 13771511.

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

R Vargas-Poussou, D Feldmann, M Vollmer, M Konrad, L Kelly, L P van den Heuvel, L Tebourbi, M Brandis, L Karolyi, S C Hebert, H H Lemmink, G Deschênes, F Hildebrandt, H W Seyberth, L M Guay-Woodford, N V Knoers, C Antignac

Am J Hum Genet. 1998 Jun; 62(6): 1332–1340. doi: 10.1086/301872

PMCID:: PMC1377151

Summary PDF–826K

Select item 50185932.

Fetal urine biochemistry in antenatal Bartter syndrome: a case report

Myriam L. Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas‐Poussou, Dominique Mahieu‐Caputo, Jean‐François Oury, Françoise Muller

Clin Case Rep. 2016 Sep; 4(9): 876–878. Published online 2016 Aug 8. doi: 10.1002/ccr3.471

PMCID:: PMC5018593

Abstract Article PDF–52K

Select item 32992763.

Antenatal Bartter Syndrome: A Review

Y. Ramesh Bhat, G. Vinayaka, K. Sreelakshmi

Int J Pediatr. 2012; 2012: 857136. Published online 2012 Feb 28. doi: 10.1155/2012/857136

PMCID:: PMC3299276

Abstract Article PDF–630K

Select item 109114654.

Bilateral juvenile renal dysplasia in a Norwegian Forest Cat

Luca Aresu, Renato Zanatta, Paola Pregel, Diego Caliari, Massimiliano Tursi, Federico Valenza, Alberto Tarducci

J Feline Med Surg. 2009 Apr; 11(4): 326–329. Published online 2009 Apr 1. doi: 10.1016/j.jfms.2008.08.004

PMCID:: PMC10911465

Abstract Article PDF–426K

Select item 105165435.

Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome

Anna Go, Beom Hee Lee, Jin-Ho Choi, Jiyoon Jeong, Euiseok Jung, Byong Sop Lee

Front Endocrinol (Lausanne) 2023; 14: 1242387. Published online 2023 Sep 6. doi: 10.3389/fendo.2023.1242387

PMCID:: PMC10516543

Abstract Article PDF–1.8M

Select item 86654826.

A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up

Mingsheng Ma, Mengqi Zhang, Yu Zhou, Fengxia Yao, Min Wei, Zhenghong Li, Zhengqing Qiu

BMC Nephrol. 2021; 22: 408. Published online 2021 Dec 11. doi: 10.1186/s12882-021-02553-1

PMCID:: PMC8665482

Abstract Article PDF–1.1M

Select item 50169597.

A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle

Shinji Sasaki, Kiyotoshi Hasegawa, Tomoko Higashi, Yutaka Suzuki, Sumio Sugano, Yasuaki Yasuda, Yoshikazu Sugimoto

BMC Genomics. 2016; 17(1): 724. Published online 2016 Sep 9. doi: 10.1186/s12864-016-3035-1

PMCID:: PMC5016959

Abstract Article PDF–2.4M

Select item 44224218.

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

Stefano Ghirardello, Elisa Dusi, Bianca Castiglione, Monica Fumagalli, Fabio Mosca

Ital J Pediatr. 2014; 40: 76. Published online 2014 Sep 26. doi: 10.1186/s13052-014-0076-4

PMCID:: PMC4422421

Abstract Article PDF–365K

Select item 18500409.

Twin-to-Twin Transfusion Syndrome : Role of the Fetal Renin-Angiotensin System

Dominique Mahieu-Caputo, Marc Dommergues, Anne-Lise Delezoide, Mireille Lacoste, Yi Cai, Françoise Narcy, Dominique Jolly, Marie Gonzales, Yves Dumez, Marie-Claire Gubler

Am J Pathol. 2000 Feb; 156(2): 629–636. doi: 10.1016/S0002-9440(10)64767-0

PMCID:: PMC1850040

Abstract Article PDF–1.2M

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