Works matching DE "BRANCHIO-oto-renal syndrome"

Results: 37

Head and neck pits in an infant.

Published in:

Australian Journal of General Practice, 2025, v. 54, n. `6, p. 375, doi. 10.31128/ajgp-10-24-7430

By:

Lim, Jean-Li

Publication type:

Article

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 4, p. 447, doi. 10.1038/nsmb.2505

By:

Patrick, Aaron N;
Cabrera, Joshua H;
Smith, Anna L;
Chen, Xiaojiang S;
Ford, Heide L;
Zhao, Rui

Publication type:

Article

Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 2, p. 273, doi. 10.1007/s00431-012-1795-4

By:

Jankauskienė, Augustina;
Azukaitis, Karolis

Publication type:

Article

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8.

Published in:

Cytogenetic & Genome Research, 2013, v. 142, n. 1, p. 1, doi. 10.1159/000355436

By:

Schmidt, T.;
Bierhals, T.;
Kortüm, F.;
Bartels, I.;
Liehr, T.;
Burfeind, P.;
Shoukier, M.;
Frank, V.;
Bergmann, C.;
Kutsche, K.

Publication type:

Article

Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders.

Published in:

2019

By:

Dutta, Mainak;
Chatterjee, Indranil

Publication type:

Case Study

Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 2013, v. 92, n. 7, p. 304, doi. 10.1177/014556131309200709

By:

Lapena Jr., Jose Florencio F.;
Jimena, Genilou Liv M.

Publication type:

Article

BOR-Syndrome-Associated Eya1 Mutations Lead to Enhanced Proteasomal Degradation of Eya1 Protein.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087407

By:

Musharraf, Amna;
Kruspe, Dagmar;
Tomasch, Jürgen;
Besenbeck, Birgit;
Englert, Christoph;
Landgraf, Kathrin

Publication type:

Article

Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067236

By:

Song, Mee Hyun;
Kwon, Tae-Jun;
Kim, Hui Ram;
Jeon, Ju Hyun;
Baek, Jeong-In;
Lee, Won-Sang;
Kim, Un-Kyung;
Choi, Jae Young

Publication type:

Article

Branchiooculofacial Syndrome and Bilateral Ectopic Thymus: Report of a Family.

Published in:

Pediatric Dermatology, 2012, v. 29, n. 6, p. 759, doi. 10.1111/j.1525-1470.2012.01877.x

By:

Loh, James;
El-Hakim, Hamdy;
Sergi, Consolato Maria;
Fiorillo, Loretta

Publication type:

Article

TFII-I and AP2α Co-Occupy the Promoters of Key Regulatory Genes Associated With Craniofacial Development.

Published in:

Cleft Palate Craniofacial Journal, 2018, v. 55, n. 6, p. 865, doi. 10.1597/15-214

By:

Miranda, Paige;
Enkhmandakh, Badam;
Bayarsaihan, Dashzeveg

Publication type:

Article

Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports.

Published in:

Cleft Palate Craniofacial Journal, 2012, v. 49, n. 3, p. 357, doi. 10.1597/10-203

By:

Galliani, Eva;
Burglen, Lydie;
Kadlub, Natacha;
Just, Walter;
Sznajer, Yves;
de Villemeur, Thierry Billette;
Soupre, Véronique;
Picard, Arnaud;
Vazquez, Marie-Paule

Publication type:

Article

گزارش موردی کودک مبتلا به سندرم نادر برانکیو-اکولو-فاسیال

Published in:

Journal of Mazandaran University of Medical Sciences (JMUMS), 2016, v. 26, n. 137, p. 217

By:

فضائلی, سیده مریم;
مهدیه, رؤیا;
شفقتی, یوسف

Publication type:

Article

A child with branchio‐oto‐renal spectrum disorder carrying an SIX1 variant.

Published in:

2023

By:

Arai, Hirokazu;
Noguchi, Atsuko;
Shina, Kazuhiro;
Otaka, Shin;
Takahashi, Ikuko;
Kosaki, Kenjiro;
Takahashi, Tsutomu

Publication type:

Case Study

Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan.

Published in:

Pediatrics International, 2014, v. 56, n. 3, p. 309, doi. 10.1111/ped.12357

By:

Morisada, Naoya;
Nozu, Kandai;
Iijima, Kazumoto

Publication type:

Article

Identification of ANLN as a new likely pathogenic gene of branchio‐otic syndrome in a three‐generation Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.525

By:

Deng, Lisha;
Liu, Yuanzhen;
Xia, Wenjun;
Hu, Jiongjiong;
Ma, Zhaoxin

Publication type:

Article

Draining Papule on the Lateral Neck of an Infant.

Published in:

JAMA Pediatrics, 2018, v. 172, n. 4, p. 386, doi. 10.1001/jamapediatrics.2017.4662

By:

Putterman, Elana;
Yu, Jiade;
Castelo-Soccio, Leslie

Publication type:

Article

Branchio-oto-renální syndrom.

Published in:

Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2011, v. 60, n. 2, p. 99

By:

Školoudík, L.;
Kalfeřt, D.;
Růžička, J.;
Kopřiva, J.

Publication type:

Article

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

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01369-5

By:

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

Publication type:

Article

Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy.

Published in:

2017

By:

Sundaram, Arun N. E.;
Abhayambika, Archana;
Kumar, Sunil

Publication type:

Case Study

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?

Published in:

Molecular Medicine Reports, 2018, v. 17, n. 2, p. 3200, doi. 10.3892/mmr.2017.8196

By:

Kause, Franziska;
Reutter, Heiko;
Marsch, Florian;
Thiele, Holger;
Altmüller, Janine;
Ludwig, Michael;
Zhang, Rong

Publication type:

Article

Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

Published in:

International Archives of Otorhinolaryngology, 2014, v. 18, n. 1, p. 68, doi. 10.1055/s-0033-1358659

By:

Andrade Lindau, Tâmara;
Vieira Cardoso, Ana Cláudia;
Freitas Rossi, Natalia;
Giacheti, Célia Maria

Publication type:

Article

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

Published in:

BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-60

By:

Gigante, Maddalena;
d'Altilia, Marilena;
Montemurno, Eustacchio;
Diella, Sterpeta;
Bruno, Francesca;
Netti, Giuseppe S.;
Ranieri, Elena;
Stallone, Giovanni;
Infante, Barbara;
Grandaliano, Giuseppe;
Gesualdo, Loreto

Publication type:

Article

Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

Published in:

Molecular Biology Reports, 2014, v. 41, n. 7, p. 4321, doi. 10.1007/s11033-014-3303-6

By:

Kim, Hui;
Song, Mee;
Kim, Min-A;
Kim, Ye-Ri;
Lee, Kyu-Yup;
Sonn, Jong;
Lee, Jaetae;
Choi, Jae;
Kim, Un-Kyung

Publication type:

Article

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

Published in:

Children, 2023, v. 10, n. 1, p. 76, doi. 10.3390/children10010076

By:

Kim, Da Hyeon;
Yang, Misun;
Jo, Heui Seung;
Park, JongHo;
Jang, JaHyun;
Shin, Sunghwan;
Son, SeHyung

Publication type:

Article

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0653-2

By:

Wang, Yan-gong;
Sun, Shu-ping;
Qiu, Yi-ling;
Xing, Qing-he;
Lu, Wei

Publication type:

Article

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

Published in:

International Journal of Audiology, 2015, v. 54, n. 9, p. 593, doi. 10.3109/14992027.2015.1030511

By:

Dantas, Vitor G.L.;
Freitas, Erika L.;
Della-Rosa, Valter A.;
Lezirovitz, Karina;
de Moraes, Ana Maria S.M.;
Ramos, Silvia B.;
Oiticica, Jeanne;
Alves, Leandro U.;
Pearson, Peter L.;
Rosenberg, Carla;
Mingroni-Netto, Regina C.

Publication type:

Article

Branchio-oto-renal syndrome: A case report and review of literature.

Published in:

Indian Journal of Otology, 2011, v. 17, n. 4, p. 176, doi. 10.4103/0971-7749.94500

By:

Bisanna, Jagannath;
Gangaraj, Smitha S.

Publication type:

Article

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Published in:

2020

By:

Men, Meichao;
Li, Wu;
Chen, Hongsheng;
Wu, Jiayu;
Feng, Yong;
Guo, Hui;
Li, Jia‐Da;
Li, Jia-Da

Publication type:

journal article

Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome.

Published in:

Laryngoscope, 2012, v. 122, n. 5, p. 1130, doi. 10.1002/lary.23217

By:

Wang, Shih-Hao;
Wu, Chen-Chi;
Lu, Ying-Chang;
Lin, Yin-Hung;
Su, Yi-Ning;
Hwu, Wuh-Liang;
Yu, I-Shing;
Hsu, Chuan-Jen

Publication type:

Article

Transoral robotic surgery-assisted excision of a congenital cervical salivary duct fistula presenting as a branchial cleft fistula.

Published in:

Head & Neck, 2016, v. 38, n. 2, p. E49, doi. 10.1002/hed.24123

By:

Rassekh, Christopher H.;
Kazahaya, Ken;
Livolsi, Virginia A.;
Loevner, Laurie A.;
Cowan, Andy T.;
Weinstein, Gregory S.;
Chen, Amy

Publication type:

Article

Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report.

Published in:

2014

By:

Safaya, A.;
Shah, S.;
Doshi, B.

Publication type:

Report

Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

Published in:

Journal of Obstetrics & Gynaecology Research, 2015, v. 41, n. 11, p. 1831, doi. 10.1111/jog.12791

By:

Bertucci, Emma;
Mazza, Vincenzo;
Lugli, Licia;
Ferrari, Fabrizio;
Stanghellini, Ilaria;
Percesepe, Antonio

Publication type:

Article

Second branchial cleft anomalies in children: a literature review.

Published in:

2018

By:

Shen, Li-Fang;
Zhou, Shui-Hong;
Chen, Qiong-qiong;
Yu, Qi

Publication type:

journal article

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

Published in:

Human Genetics, 2013, v. 132, n. 12, p. 1339, doi. 10.1007/s00439-013-1338-8

By:

Brophy, Patrick D.;
Alasti, Fatemeh;
Darbro, Benjamin W.;
Clarke, Jason;
Nishimura, Carla;
Cobb, Bryan;
Smith, Richard J.;
Manak, J. Robert

Publication type:

Article

The Differences in Management of Isolated Orbital Floor Fractures.

Published in:

2011

By:

Alinasab, Babak;
Stjärne, Pär

Publication type:

Abstract

Germinal Mosaicism in a Family With BO Syndrome.

Published in:

Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 118S, doi. 10.1177/0003489415575062

By:

Miyagawa, Maiko;
Nishio, Shin-ya;
Hattori, Mitsuru;
Takumi, Yutaka;
Usami, Shin-ichi

Publication type:

Article

Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0090-9

By:

Xiaoli Chen;
Jun Wang;
Mitchell, Elyse;
Jin Guo;
Liwen Wang;
Yu Zhang;
Hodge, Jennelle C.;
Yiping Shen

Publication type:

Article

Works matching DE "BRANCHIO-oto-renal syndrome"

Head and neck pits in an infant.

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome.

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8.

Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders.

Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.

BOR-Syndrome-Associated <i>Eya1</i> Mutations Lead to Enhanced Proteasomal Degradation of Eya1 Protein.

Mutational Analysis of <i>EYA1</i>, <i>SIX1</i> and <i>SIX5</i> Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome.

Branchiooculofacial Syndrome and Bilateral Ectopic Thymus: Report of a Family.

TFII-I and AP2α Co-Occupy the Promoters of Key Regulatory Genes Associated With Craniofacial Development.

Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports.

گزارش موردی کودک مبتلا به سندرم نادر برانکیو-اکولو-فاسیال

A child with branchio‐oto‐renal spectrum disorder carrying an SIX1 variant.

Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan.

Identification of ANLN as a new likely pathogenic gene of branchio‐otic syndrome in a three‐generation Chinese family.

Draining Papule on the Lateral Neck of an Infant.

Branchio-oto-renální syndrom.

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

Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy.

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?

Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

Branchio-oto-renal syndrome: A case report and review of literature.

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome.

Transoral robotic surgery-assisted excision of a congenital cervical salivary duct fistula presenting as a branchial cleft fistula.

Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report.

Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

Second branchial cleft anomalies in children: a literature review.

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

The Differences in Management of Isolated Orbital Floor Fractures.

Germinal Mosaicism in a Family With BO Syndrome.

Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.