PMC Articles for MedGen (Select 154237) - PMC

Chaozhe Yang, Naoe Harafuji, Ljubica Caldovic, Weiying Yu, Ravindra Boddu, Surajit Bhattacharya, Hayk Barseghyan, Heather Gordish-Dressman, Oded Foreman, Zsuzsa Bebok, Eva M. Eicher, Lisa M. Guay-Woodford

J Mol Med (Berl) 2023; 101(9): 1141–1151. Published online 2023 Aug 16. doi: 10.1007/s00109-023-02351-2

PMCID:: PMC10482757

Article PDF–1.6M

Select item 101300084.

Isthmin-1 (Ism1) modulates renal branching morphogenesis and mesenchyme condensation during early kidney development

Ge Gao, Xiaoping Li, Zhixin Jiang, Liliana Osorio, Ying Lam Tang, Xueqing Yu, Guoxiang Jin, Zhongjun Zhou

Nat Commun. 2023; 14: 2378. Published online 2023 Apr 25. doi: 10.1038/s41467-023-37992-x

PMCID:: PMC10130008

Article PDF–15M

Select item 101030915.

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt

J Am Soc Nephrol. 2023 Feb; 34(2): 273–290. Published online 2023 Nov 22. doi: 10.1681/ASN.2022010050

PMCID:: PMC10103091

Article

Select item 96528196.

A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3

Sixian Wu, Xiang Wang, Siyu Dai, Guohui Zhang, Jiaojiao Zhou, Ying Shen

Orphanet J Rare Dis. 2022; 17: 413. Published online 2022 Nov 12. doi: 10.1186/s13023-022-02553-w

PMCID:: PMC9652819

Article PDF–3.9M

Select item 96017977.

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract

Mohamed H. Al-Hamed, John A. Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali, Maha Tulbah, Faiqa Imtiaz

Genes (Basel) 2022 Oct; 13(10): 1687. Published online 2022 Sep 21. doi: 10.3390/genes13101687

PMCID:: PMC9601797

Article PDF–1.0M

Select item 93785448.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen

Genet Med. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Genet Med. 2022 Aug; 24(8): 1753–1760. Published online 2022 May 18. doi: 10.1016/j.gim.2022.04.010

Correction in:: Genet Med. 2023 Feb; 25(2): 100004.

PMCID:: PMC9378544

Article PDF–129K

Select item 91104399.

Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption

Yujun Liu, Xu Zhi

Reprod Sci. 2022 Jun; 29(6): 1697–1709. Published online 2021 Jul 6. doi: 10.1007/s43032-021-00638-8

PMCID:: PMC9110439

Article PDF–457K

Select item 901722110.

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

Guoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy-Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M. Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria B.P. Toralles, Paula M.L. Pitanga, Ratna D. Puri, Rebecca Hernan, Wendy K. Chung, Aida M. Bertoli-Avella, Nouriya Al-Sannaa, Maha S. Zaki, Karl Willert, Bruno Reversade, Joseph G. Gleeson

N Engl J Med. Author manuscript; available in PMC 2022 Apr 19.

Published in final edited form as: N Engl J Med. 2021 Sep 30; 385(14): 1292–1301. doi: 10.1056/NEJMoa2033911

PMCID:: PMC9017221

Article PDF–923K

Select item 857773611.

Amnioinfusions to Treat Early Onset Anhydramnios Caused by Renal Anomalies: Background and Rationale for the Renal Anhydramnios Fetal Therapy Trial

Elizabeth M. O’Hare, Angie C. Jelin, Jena L. Miller, Rodrigo Ruano, Meredith A. Atkinson, Ahmet A. Baschat, Eric B. Jelin

Fetal Diagn Ther. Author manuscript; available in PMC 2021 Nov 9.

Published in final edited form as: Fetal Diagn Ther. 2019; 45(6): 365–372. Published online 2019 Mar 21. doi: 10.1159/000497472

PMCID:: PMC8577736

Article PDF–318K

Select item 845526412.

A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans

Lei Dai, Jingzhi Li, Liangqun Xie, Weinan Wang, Yang Lu, Mingkun Xie, Jingrui Huang, Kuifang Shen, Hui Yang, Chenlin Pei, Yanhua Zhao, Weishe Zhang

J Am Soc Nephrol. 2021 Aug; 32(8): 1871–1879. Published online 2021 Aug. doi: 10.1681/ASN.2020121762

PMCID:: PMC8455264

Article

Select item 844630313.

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

Article PDF–615K

Select item 818304814.

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Nathalie Drouot, Pascal Chambon, Bruno J. Gonzalez, Arie Horowitz, Annie Laquerriere, Pascale Saugier-Veber

Acta Neuropathol Commun. 2021; 9: 104. Published online 2021 Jun 6. doi: 10.1186/s40478-021-01207-5

PMCID:: PMC8183048

Article PDF–2.3M

Select item 789466015.

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Veronica Arora, Suliman Khan, Ayman W. El-Hattab, Ratna Dua Puri, Maria Eugenia Rocha, Rijad Merdzanic, Omid Paknia, Christian Beetz, Arndt Rolfs, Aida M. Bertoli-Avella, Peter Bauer, Ishwar C. Verma

J Am Soc Nephrol. 2021 Jan; 32(1): 223–228. Published online 2020 Oct 5. doi: 10.1681/ASN.2020040478

PMCID:: PMC7894660

Article

Select item 782310616.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Ella M M A Martin, Annabelle Enriquez, Duncan B Sparrow, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Emma L Duncan, Kavitha R Iyer, Joelene A Greasby, Eddie Ip, Eleni Giannoulatou, Delicia Sheng, Elizabeth Wohler, Clémantine Dimartino, Jeanne Amiel, Yline Capri, Daphné Lehalle, Adi Mory, Yael Wilnai, Yael Lebenthal, Ali G Gharavi, Grażyna G Krzemień, Monika Miklaszewska, Robert D Steiner, Cathy Raggio, Robert Blank, Hagit Baris Feldman, Hila Milo Rasouly, Nara L M Sobreira, Rebekah Jobling, Christopher T Gordon, Philip F Giampietro, Sally L Dunwoodie, Gavin Chapman

Hum Mol Genet. 2020 Nov 15; 29(22): 3662–3678. Published online 2020 Dec 4. doi: 10.1093/hmg/ddaa258

PMCID:: PMC7823106

Article PDF–1.5M

Select item 782063217.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

Pauline E. Schneeberger, Leonie von Elsner, Emma L. Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra J.G. Zwijnenburg, Marjan M. Weiss, Catherine L.R. Merry, Kerstin Kutsche

Am J Hum Genet. 2020 Dec 3; 107(6): 1044–1061. Published online 2020 Nov 6. doi: 10.1016/j.ajhg.2020.10.007

PMCID:: PMC7820632

Article PDF–2.6M

Select item 760895818.

Nephron Progenitor Maintenance Is Controlled through Fibroblast Growth Factors and Sprouty1 Interaction

Sung-Ho Huh, Ligyeom Ha, Hee-Seong Jang

J Am Soc Nephrol. 2020 Nov; 31(11): 2559–2572. Published online 2020 Aug 4. doi: 10.1681/ASN.2020040401

PMCID:: PMC7608958

Article

Select item 758102419.

Eight rare urinary disorders in a patient with Kallmann syndrome: A case report

Huining Tian, Zi Yan, You Lv, Lin Sun, Xiaokun Gang, Guixia Wang

Medicine (Baltimore) 2020 Oct 23; 99(43): e22936. Published online 2020 Oct 23. doi: 10.1097/MD.0000000000022936

PMCID:: PMC7581024

Article PDF–388K

Select item 743216120.

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Katharina Schoner, Martina Witsch‐Baumgartner, Jana Behunova, Robert Petrovic, Rainer Bald, Susanne G. Kircher, Annette Ramaswamy, Britta Kluge, Matthias Meyer‐Wittkopf, Ralf Schmitz, Barbara Fritz, Johannes Zschocke, Franco Laccone, Helga Rehder

Birth Defects Res. 2020 Jan 15; 112(2): 175–185. Published online 2019 Dec 16. doi: 10.1002/bdr2.1620

PMCID:: PMC7432161

Article PDF–2.9M

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