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Items: 1 to 20 of 123

1.
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
Susanna Negrisolo, Andrea Carraro, Giulia Fregonese, Elisa Benetti, Franz Schaefer, Marta Alberti, Salvatore Melchionda, Rita Fischetto, Mario Giordano, Luisa Murer
Eur J Hum Genet. 2018 Nov; 26(11): 1708–1712. Published online 2018 Jul 4. doi: 10.1038/s41431-018-0213-4
PMCID:
PMC6189091
AbstractArticlePDF–1.1M
2.
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
AbstractArticlePDF–182K
3.
A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation
Jeannine M. Basta, Lynn Robbins, Darcy R. Denner, Grant R. Kolar, Michael Rauchman
Development. 2017 Sep 1; 144(17): 3080–3094. doi: 10.1242/dev.148692
PMCID:
PMC5611954
AbstractArticle
4.
Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion
Jiahao Song, Qian Zhang, Bing Lu, Zhongshan Gou, Ting Wang, Hui Tang, Jingjing Xiang, Wei Jiang, Xuedong Deng
Front Genet. 2021; 12: 696624. Published online 2021 Sep 23. doi: 10.3389/fgene.2021.696624
PMCID:
PMC8496901
AbstractArticlePDF–1.4M
5.
Bilateral Renal Hypoplasia with High β2-Microglobulinuria in the Neonatal Period
SADAYUKI NAGAI, KAZUMICHI FUJIOKA, SHOGO MINAMIKAWA, KANDAI NOZU, KAZUMOTO IIJIMA
Kobe J Med Sci. 2021; 67(1): E34–E37. Published online 2021 Aug 2.
PMCID:
PMC8622258
AbstractArticlePDF–518K
6.
Congenital anomalies of kidney and hand: a review
Gopalakrishnan Natarajan, Dhanapriya Jeyachandran, Bala Subramaniyan, Dineshkumar Thanigachalam, Arul Rajagopalan
Clin Kidney J. 2013 Apr; 6(2): 144–149. Published online 2013 Feb 3. doi: 10.1093/ckj/sfs186
PMCID:
PMC4432441
AbstractArticlePDF–213K
7.
COMBINED PANCREATIC ISLET AND KIDNEY TRANSPLANTATION IN A CHILD WITH UNSTABLE TYPE 1 DIABETES AND END-STAGE RENAL DISEASE
K.A. Benedict, S. Moassesfar, S. Adi, S.E. Gitelman, J.L. Brennan, M. McEnhill, P.G. Stock, A.A. Portale, A.M. Posselt
Am J Transplant. Author manuscript; available in PMC 2014 Jun 19.
Published in final edited form as: Am J Transplant. 2013 Aug; 13(8): 2207–2210. Published online 2013 Jun 13. doi: 10.1111/ajt.12323
PMCID:
PMC4063279
AbstractArticlePDF–253K
8.
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles
Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele
Front Pediatr. 2017; 5: 251. Published online 2017 Nov 24. doi: 10.3389/fped.2017.00251
PMCID:
PMC5705563
AbstractArticlePDF–1.0M
9.
Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence
Mizuki Tagami, Shigeru Honda, Ichiro Morioka, Masafumi Matsuo, Akira Negi
Case Rep Ophthalmol. 2010 Sep-Dec; 1(2): 94–98. Published online 2010 Nov 29. doi: 10.1159/000321625
PMCID:
PMC2999732
AbstractArticlePDF–265K
10.
Urinary extracellular vesicles signature for diagnosis of kidney disease
Keiichi Takizawa, Koji Ueda, Masahiro Sekiguchi, Eiji Nakano, Tatsuya Nishimura, Yuko Kajiho, Shoichiro Kanda, Kenichiro Miura, Motoshi Hattori, Junya Hashimoto, Yuko Hamasaki, Masataka Hisano, Tae Omori, Takayuki Okamoto, Hirotsugu Kitayama, Naoya Fujita, Hiromi Kuramochi, Takanori Ichiki, Akira Oka, Yutaka Harita
iScience. 2022 Nov 18; 25(11): 105416. Published online 2022 Nov 8. doi: 10.1016/j.isci.2022.105416
PMCID:
PMC9684058
AbstractArticlePDF–4.7M
11.
Development of antibody mediated rejection shortly after acute cellular rejection in a pediatric kidney transplantation recipient
Mari Okada, Koichi Kamei, Kentaro Matsuoka, Shuichi Ito
CEN Case Rep. 2018 Nov; 7(2): 288–291. Published online 2018 Jun 12. doi: 10.1007/s13730-018-0344-z
PMCID:
PMC6181892
AbstractArticlePDF–897K
12.
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection
Takahiro Tominaga, Takeshi Sato, Yosuke Ichihashi, Naoko Amano, Yasuaki Kobayashi, Midori Awazu
CEN Case Rep. 2017 May; 6(1): 88–90. Published online 2017 Feb 16. doi: 10.1007/s13730-017-0250-9
PMCID:
PMC5438814
AbstractArticlePDF–603K
13.
Winter syndrome: about an uncommon case report
Aziz Slaoui, Sarah Talib, Abdelali Kallali, Mariem Rouijel, Aziz Baydada
BMC Womens Health. 2020; 20: 76. Published online 2020 Apr 21. doi: 10.1186/s12905-020-00951-5
PMCID:
PMC7175489
AbstractArticlePDF–6.4M
14.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia
Gabrielle Lemire, Bixia Zheng, Grace U. Ediae, Ruobing Zou, Priya T. Bhola, Caitlin Chisholm, Joseph de Nanassy, Bryan Lo, Chunyan Wang, Shirlee Shril, Sherif El Desoky, Mohammed Shalaby, Jameela A. Kari, Xueqi Wang, Care4Rare Canada Consortium, Kristin D. Kernohan, Kym M. Boycott, Friedhelm Hildebrandt, Sarah L. Sawyer
Am J Med Genet A. Author manuscript; available in PMC 2022 Oct 1.
Published in final edited form as: Am J Med Genet A. 2021 Oct; 185(10): 3005–3011. Published online 2021 Jun 19. doi: 10.1002/ajmg.a.62398
PMCID:
PMC8446303
AbstractArticlePDF–615K
15.
Successful Treatment of Hepatitis C Virus Infection Using Direct-Acting Antiviral Agents (DAAs) in Adolescents with Kidney Transplantation: A Case Series
Cahyani Gita Ambarsari, Eka Laksmi Hidayati, Irsan Hasan, Angela Grace, Hanifah Oswari
Int J Nephrol Renovasc Dis. 2020; 13: 139–146. Published online 2020 Jun 8. doi: 10.2147/IJNRD.S248632
PMCID:
PMC7292374
AbstractArticlePDF–4.1M
16.
Left-sided cryptorchidism in mice with Wilms Tumour 1 gene deletion in gubernaculum testis
Elena M. Kaftanovskaya, Giselle Neukirchner, Vicki Huff, Alexander I. Agoulnik
J Pathol. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: J Pathol. 2013 May; 230(1): 10.1002/path.4161. Published online 2013 Mar 12. doi: 10.1002/path.4161
PMCID:
PMC3819214
AbstractArticlePDF–1.9M
17.
Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrome
Jared Nathanson, Daniel T. Swarr, Amihood Singer, Mochi Liu, Amy Chinn, Wendy Jones, Jane Hurst, Nahla Khalek, Elaine Zackai, Anne Slavotinek
Am J Med Genet A. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Am J Med Genet A. 2013 Mar; 161(3): 473–478. Published online 2013 Feb 8. doi: 10.1002/ajmg.a.35736
PMCID:
PMC3581754
AbstractArticlePDF–530K
18.
Stage Specific Requirement of Gfrα1 in the Ureteric Epithelium during Kidney Development
T. Keefe Davis, Masato Hoshi, Sanjay Jain
Mech Dev. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: Mech Dev. 2013 Sep-Oct; 130(0): 506–518. Published online 2013 Mar 28. doi: 10.1016/j.mod.2013.03.001
PMCID:
PMC3722262
AbstractArticlePDF–5.1M
19.
Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes
Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Raymonde Bouvier, Philippe Loget, Jelena Martinovic, Pierre Dechelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michele Mathieu, Bruno Turlin, Tania Attie-Bitach, Rémi Salomon, Marie-Claire Gübler, Corinne Antignac, Laurence Heidet
Clin J Am Soc Nephrol. 2013 Jul 3; 8(7): 1179–1187. Published online 2013 Mar 28. doi: 10.2215/CJN.10221012
PMCID:
PMC3700697
AbstractArticle
20.
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridation (array CGH) in persistent pulmonary hypertension of the newborn
Flore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, Florence Niel-Bütschi, Eric Giannoni, Schmutz Nathalie Besuchet, Jacques S. Beckmann, Zhilian Xia, Charles Shaw-Smith, Pawel Stankiewicz, Claire Langston, Florence Fellmann
Pediatr Crit Care Med. Author manuscript; available in PMC 2013 May 16.
Published in final edited form as: Pediatr Crit Care Med. 2011 Nov; 12(6): e427–e432. doi: 10.1097/PCC.0b013e3182192c96
PMCID:
PMC3655521
AbstractArticlePDF–1.1M

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