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Select item 38502001.

Roles of BOR2, a Boron Exporter, in Cross Linking of Rhamnogalacturonan II and Root Elongation under Boron Limitation in Arabidopsis

Kyoko Miwa, Shinji Wakuta, Shigeki Takada, Koji Ide, Junpei Takano, Satoshi Naito, Hiroyuki Omori, Toshiro Matsunaga, Toru Fujiwara

Plant Physiol. 2013 Dec; 163(4): 1699–1709. Published online 2013 Oct 10. doi: 10.1104/pp.113.225995

PMCID:: PMC3850200

Article PDF–1.1M

Select item 100002722.

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N. Yu, Stuart Bauer, Charles Berde, Pankaj B. Agrawal, Alan H. Beggs, Ali G. Gharavi, Louis Kunkel, Catherine A. Brownstein

Adv Genet (Hoboken) 2023 Mar; 4(1): 2200013. Published online 2022 Nov 27. doi: 10.1002/ggn2.202200013

PMCID:: PMC10000272

Article PDF–404K

Select item 74512723.

Durvalumab activity in previously treated patients who stopped durvalumab without disease progression

Siddharth Sheth, Chen Gao, Nancy Mueller, Natasha Angra, Ashok Gupta, Caroline Germa, Pablo Martinez, Jean-Charles Soria

J Immunother Cancer. 2020; 8(2): e000650. Published online 2020 Aug 26. doi: 10.1136/jitc-2020-000650

PMCID:: PMC7451272

Article PDF–411K

Select item 51555994.

Linking hydrogen-mediated boron toxicity tolerance with improvement of root elongation, water status and reactive oxygen species balance: a case study for rice

Yu Wang, Xingliang Duan, Sheng Xu, Ren Wang, Zhaozeng Ouyang, Wenbiao Shen

Ann Bot. 2016 Dec; 118(7): 1279–1291. Published online 2016 Sep 10. doi: 10.1093/aob/mcw181

PMCID:: PMC5155599

Article PDF–795K

Select item 109304755.

鳃耳综合征/鳃耳肾综合征的遗传学研究进展

陈岸海, 凌捷, 冯永

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 28; 47(1): 129–138. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210251

PMCID:: PMC10930475

Article PDF–710K

Select item 107547236.

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency

Nagham M. Elbagoury, Asmaa F. Abdel-Aleem, Wessam E. Sharaf-Eldin, Engy A. Ashaat, Mona L. Esswai

J Mol Neurosci. 2023; 73(11-12): 976–982. Published online 2023 Nov 4. doi: 10.1007/s12031-023-02170-7

PMCID:: PMC10754723

Article PDF–1000K

Select item 106276267.

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review

Fangmei Luo, Meiling Lu, Lu Zhao, Ping Zhou

Medicine (Baltimore) 2023 Nov 3; 102(44): e34962. Published online 2023 Nov 3. doi: 10.1097/MD.0000000000034962

PMCID:: PMC10627626

Article PDF–542K

Select item 104644058.

Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases

Zhilang Lin, Jie Li, Yuxin Pei, Ying Mo, Xiaoyun Jiang, Lizhi Chen

BMC Nephrol. 2023; 24: 248. Published online 2023 Aug 23. doi: 10.1186/s12882-023-03193-3

PMCID:: PMC10464405

Article PDF–1.4M

Select item 104268129.

Mcrs1 is required for branchial arch and cranial cartilage development

Stephanie Keer, Helene Cousin, Karyn Jourdeuil, Karen M. Neilson, Andre L. P. Tavares, Dominique Alfandari, Sally A. Moody

Dev Biol. Author manuscript; available in PMC 2023 Aug 15.

Published in final edited form as: Dev Biol. 2022 Sep; 489: 62–75. Published online 2022 Jun 11. doi: 10.1016/j.ydbio.2022.06.002

PMCID:: PMC10426812

Article PDF–3.4M

Select item 1036197010.

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea

Somin Lee, Yejin Yun, Ju Hyuen Cha, Jin Hee Han, Dae Hee Lee, Jae-Jin Song, Moo Kyun Park, Jun Ho Lee, Seung Ha Oh, Byung Yoon Choi, Sang-Yeon Lee

Sci Rep. 2023; 13: 11776. Published online 2023 Jul 21. doi: 10.1038/s41598-023-38909-w

PMCID:: PMC10361970

Article PDF–2.6M

Select item 1025951411.

Dysfunction of programmed embryo senescence is linked to genetic developmental defects

Cristina de Lope, Rebeca García-Lucena, Marta Magariños, Yolanda León, Nuria Casa-Rodríguez, Nuria Contreras, Carmen Escudero-Iriarte, Isabel Varela-Nieto, Pascal Maire, Ignacio Palmero

Development. 2023 May 1; 150(9): dev200903. Published online 2023 May 3. doi: 10.1242/dev.200903

PMCID:: PMC10259514

Article

Select item 1012789812.

鳃-耳-肾综合征家系EYA1基因一个新的外显子重复变异

李隽, 赵培伟, 夏志杰, 姚薇, 魏幼华, 郝丽丽, 夏忠芳, 何学莲

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Jul 5; 35(7): 607–612. Chinese. doi: 10.13201/j.issn.2096-7993.2021.07.007

PMCID:: PMC10127898

Article PDF–5.8M

Select item 995741113.

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

Natalia Bałdyga, Dominika Oziębło, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak

Genes (Basel) 2023 Feb; 14(2): 335. Published online 2023 Jan 28. doi: 10.3390/genes14020335

PMCID:: PMC9957411

Article PDF–957K

Select item 973125314.

The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns

A.F. Juliano, F. D’Arco, J. Pao, S. Picariello, E. Clement, G. Moonis, C.D. Robson

AJNR Am J Neuroradiol. 2022 Nov; 43(11): 1646–1652. doi: 10.3174/ajnr.A7653

PMCID:: PMC9731253

Article PDF–2.0M

Select item 963519715.

An infant with congenital heart defects and proteinuria: a case report

Dandan Liu, Yafeng Wang

BMC Pediatr. 2022; 22: 636. Published online 2022 Nov 4. doi: 10.1186/s12887-022-03705-4

PMCID:: PMC9635197

Article PDF–953K

Select item 962262416.

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Ping Tang, Jiarui Li, Jun Li, Juan Yang, Jianjun Zhu

Medicine (Baltimore) 2022 Oct 28; 101(43): e31172. Published online 2022 Oct 28. doi: 10.1097/MD.0000000000031172

PMCID:: PMC9622624

Article PDF–615K

Select item 952697717.

From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report

Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani

Ital J Pediatr. 2022; 48: 177. Published online 2022 Oct 1. doi: 10.1186/s13052-022-01369-5

PMCID:: PMC9526977

Article PDF–1014K

Select item 951617718.

Ectopic expression of BOTRYTIS SUSCEPTIBLE1 reveals its function as a positive regulator of wound-induced cell death and plant susceptibility to Botrytis

Fuqiang Cui, Xiaoxiao Li, Wenwu Wu, Wenbo Luo, Ying Wu, Mikael Brosché, Kirk Overmyer

Plant Cell. 2022 Oct; 34(10): 4105–4116. Published online 2022 Aug 10. doi: 10.1093/plcell/koac206

Correction in:: Plant Cell. 2023 Feb; 35(2): 942.

PMCID:: PMC9516177

Article PDF–4.6M

Select item 933424619.

A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome

Ryosuke Saiki, Kan Katayama, Masako Kitano, Kayo Tsujimoto, Fumika Tanaka, Yasuo Suzuki, Tomohiro Murata, Tairo Kurita, Ryuji Okamoto, Kazuhiko Takeuchi, Kaoru Dohi

Intern Med. 2022 Jul 1; 61(13): 2033–2038. Published online 2021 Dec 4. doi: 10.2169/internalmedicine.8508-21

PMCID:: PMC9334246

Article PDF–1.2M

Select item 926658920.

A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family

Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam

Mol Genet Genomic Med. 2022 Jul; 10(7): e1995. Published online 2022 Jun 14. doi: 10.1002/mgg3.1995