Works matching DE "CONGENITAL central hypoventilation syndrome"

Results: 48

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Published in:

International Journal of Legal Medicine, 2014, v. 128, n. 4, p. 621, doi. 10.1007/s00414-013-0962-0

By:

Liebrechts-Akkerman, Germaine;
Liu, Fan;
Lao, Oscar;
Ooms, Ariadne;
Duijn, Kate;
Vermeulen, Mark;
Jaddoe, Vincent;
Hofman, Albert;
Engelberts, Adèle;
Kayser, Manfred

Publication type:

Article

Effect of Facemask in Congenital Central Hypoventilation Syndrome.

Published in:

Respiration, 2023, v. 102, n. 12, p. 991, doi. 10.1159/000535127

By:

Dudoignon, Benjamin;
Patout, Maxime;
Couque, Nathalie;
Delclaux, Christophe;
Bokov, Plamen

Publication type:

Article

Congenital central hypoventilation syndrome and carbon dioxide sensitivity.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1727, doi. 10.1007/s00431-014-2432-1

By:

Rossor, Thomas;
Soe, Aung;
Bhat, Ravindra;
Greenough, Anne

Publication type:

Article

Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.

Published in:

Clinical Medicine Insights: Pediatrics, 2023, v. 17, p. 1, doi. 10.1177/11795565231169556

By:

Fain, Mary Ellen;
Westbrook, Adrianna L;
Kasi, Ajay S

Publication type:

Article

The genetics of congenital central hypoventilation syndrome: clinical implications.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 135, doi. 10.2147/TACG.S140629

By:

Bishara, John;
Keens, Thomas G;
Perez, Iris A

Publication type:

Article

Congenital central hypoventilation syndrome with Hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 5, p. 519

By:

Kaymakçı, Aytekin;
Narter, Fatma;
Yazar, Ahmet Sami;
Yılmaz, Müberra Seğmen

Publication type:

Article

Pitfalls of open-access sleep medicine: a case of missed congenital central hypoventilation syndrome.

Published in:

2016

By:

Ellender, Claire M.;
Hukins, Craig A.

Publication type:

journal article

Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome.

Published in:

Indian Journal of Critical Care Medicine, 2019, v. 23, n. 11, p. 536, doi. 10.5005/jp-journals-10071-23286

By:

Rauf, Abdul;
Gupta, Dhiren;
Sachdev, Anil;
Gupta, Neeraj;
Gupta, Suresh;
Kumar, Praveen;
Sabharwal, Ramakant

Publication type:

Article

The role of pH-sensitive TASK channels in central respiratory chemoreception.

Published in:

Pflügers Archiv: European Journal of Physiology, 2015, v. 467, n. 5, p. 917, doi. 10.1007/s00424-014-1633-9

By:

Bayliss, Douglas;
Barhanin, Jacques;
Gestreau, Christian;
Guyenet, Patrice

Publication type:

Article

Conscious sedation with dexmedetomidine for implantation of a phrenic nerve stimulator in a pediatric case of late-onset congenital central hypoventilation syndrome.

Published in:

JA Clinical Reports, 2017, v. 3, n. 1, p. 1, doi. 10.1186/s40981-017-0117-2

By:

Hirooka, Keiko;
Kamata, Kotoe;
Horisawa, Shiro;
Nomura, Minoru;
Taira, Takaomi;
Ozaki, Makoto

Publication type:

Article

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Published in:

2018

By:

Rojnueangnit, Kitiwan;
Descartes, Maria

Publication type:

Case Study

Sleep apnea symptoms and risk of temporomandibular disorder: OPPERA cohort.

Published in:: Journal of Oral & Facial Pain & Headache, 2014, v. 28, n. 1, p. 91, doi. 10.1177/0022034513488140
Publication type:: Article

The Cerebral Cost of Breathing: An fMRI Case-Study in Congenital Central Hypoventilation Syndrome.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107850

By:

Sharman, Mike;
Gallea, Cécile;
Lehongre, Katia;
Galanaud, Damien;
Nicolas, Nathalie;
Similowski, Thomas;
Cohen, Laurent;
Straus, Christian;
Naccache, Lionel

Publication type:

Article

Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake?

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084534

By:

Tremoureux, Lysandre;
Raux, Mathieu;
Hudson, Anna L.;
Ranohavimparany, Anja;
Straus, Christian;
Similowski, Thomas

Publication type:

Article

Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.

Published in:

Respiratory Research, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12931-015-0241-3

By:

Verkaeren, Emilienne;
Brion, Agnès;
Hurbault, Amélie;
Chenivesse, Cécile;
Morelot-Panzini, Capucine;
Gonzalez-Bermejo, Jésus;
Attali, Valérie;
Similowski, Thomas;
Straus, Christian

Publication type:

Article

Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases.

Published in:

Current Pediatric Reviews, 2019, v. 15, n. 3, p. 139, doi. 10.2174/1573396315666190621103954

By:

Bardanzellu, Flaminia;
Pintus, Maria C.;
Fanos, Vassilios;
Marcialis, Maria Antonietta

Publication type:

Article

Graphical Abstracts.

Published in:: Current Pediatric Reviews, 2019, v. 15, n. 3, p. 1
Publication type:: Article

Evaluating the evidence: is phrenic nerve stimulation a safe and effective tool for decreasing ventilator dependence in patients with high cervical spinal cord injuries and central hypoventilation?

Published in:

Child's Nervous System, 2016, v. 32, n. 6, p. 1033, doi. 10.1007/s00381-016-3086-2

By:

Sieg, Emily;
Payne, Russell;
Hazard, Sprague;
Rizk, Elias

Publication type:

Article

An Assistive Device for Congenital Central Hypoventilation Syndrome Outpatients During Sleep.

Published in:

Annals of Biomedical Engineering, 2014, v. 42, n. 10, p. 2106, doi. 10.1007/s10439-014-1068-7

By:

Biffi, Emilia;
Piazza, Caterina;
Cavalleri, Matteo;
Taddeo, Peter;
Carcano, Alessandro;
Morandi, Francesco;
Reni, Gianluigi

Publication type:

Article

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 473, doi. 10.1038/jhg.2015.65

By:

Shimokaze, Tomoyuki;
Sasaki, Ayako;
Meguro, Toru;
Hasegawa, Hisaya;
Hiraku, Yuka;
Yoshikawa, Tetsushi;
Kishikawa, Yumiko;
Hayasaka, Kiyoshi

Publication type:

Article

Genetics Corner: PHOX2B-Associated Congenital Central Hypoventilation Syndrome in a 2-Year-Old Male with Autism.

Published in:

Neonatology Today, 2024, v. 19, n. 12, p. 185

By:

Clark, Robin Dawn;
Ramanathan, Subhadra

Publication type:

Article

Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians.

Published in:

Neonatal Network, 2019, v. 33, n. 4, p. 217, doi. 10.1891/0730-0832.38.4.217

By:

Fisher, Michelle;
Smeiles, Chelsey;
Jnah, Amy J.;
Ruiz, Michelle Elias;
Difiore, Tina;
Sewell, Kerry

Publication type:

Article

Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome.

Published in:

BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0299-z

By:

Trang, Ha;
Zada, Tarif Masri;
Heraut, Fawzia

Publication type:

Article

Cover Image.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 11, p. i, doi. 10.1111/pan.13540

By:

Ballard, Heather A.;
Leavitt, Olga S.;
Chin, Anthony C.;
Kabre, Rashmi;
Weese‐Mayer, Debra E.;
Hajduk, John;
Jagannathan, Narasimhan

Publication type:

Article

Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid‐onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve‐diaphragm pacemaker implantation

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 11, p. 963, doi. 10.1111/pan.13475

By:

Ballard, Heather A.;
Leavitt, Olga S.;
Chin, Anthony C.;
Kabre, Rashmi;
Weese‐Mayer, Debra E.;
Hajduk, John;
Jagannathan, Narasimhan

Publication type:

Article

Airway Obstruction during Sleep due to Diaphragm Pacing Precludes Decannulation in Young Children with CCHS.

Published in:

Respiration, 2019, v. 98, n. 3, p. 263, doi. 10.1159/000501172

By:

Valika, Taher;
Chin, Anthony C.;
Thompson, Dana M.;
Kabre, Rashmi;
Lavin, Jennifer M.;
Neault, Sarah H.;
Ballard, Heather A.;
Kenny, Anna S.;
Weese-Mayer, Debra E.

Publication type:

Article

Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients.

Published in:

Respiration, 2015, v. 89, n. 6, p. 534, doi. 10.1159/000381401

By:

Diep, Bonnie;
Wang, Annie;
Kun, Sheila;
McComb, J. Gordon;
Shaul, Donald B.;
Shin, Cathy E.;
Keens, Thomas G.;
Perez, Iris A.

Publication type:

Article

Early diagnosis of congenital central hypoventilation syndrome.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15803

By:

Miyosawa, Yukihide;
Nakamura, Chizuko;
Fujimori, Mitsuho;
Kamiya, Motoko

Publication type:

Article

Evaluation of respiratory center function in congenital central hypoventilation syndrome by monitoring electrical activity of the diaphragm.

Published in:

Pediatrics International, 2021, v. 63, n. 2, p. 168, doi. 10.1111/ped.14359

By:

Yamada, Yosuke;
Hasegawa, Hisaya;
Henmi, Nobuhide;
Tsuruta, Shio;
Wasa, Masanori;
Kihara, Hirotaka;
Kodera, Takayuki;
Kouyama, Toshinari;
Kumazawa, Kensuke

Publication type:

Article

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Published in:

Pediatrics International, 2019, v. 61, n. 4, p. 393, doi. 10.1111/ped.13812

By:

Sasaki, Ayako;
Kishikawa, Yumiko;
Imaji, Reisuke;
Fukushima, Yu;
Nakamura, Yukiko;
Nishimura, Yutaka;
Yamada, Megumi;
Mino, Yoichi;
Mitsui, Tetsuo;
Hayasaka, Kiyoshi

Publication type:

Article

Desaturations in a newborn with bowel obstruction, an autonomic connection.

Published in:

University of Toronto Medical Journal, 2022, v. 99, n. 3, p. 66

By:

Kebaya, Lilian M. N.;
Kariuki, Celia Wanda;
Coughlin, Kevin;
St-Laurent, Aaron

Publication type:

Article

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.

Published in:

Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 4, p. 495, doi. 10.5507/bp.2016.038

By:

Klaskova, Eva;
Drabek, Jiri;
Hobzova, Milada;
Smolka, Vratislav;
Seda, Miroslav;
Hyjanek, Jiri;
Slavkovsky, Rastislav;
Stranska, Jana;
Prochazka, Martin

Publication type:

Article

Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome.

Published in:

2021

By:

Madani, Amélia;
Pitollat, Gabriel;
Sizun, Eléonore;
Cardoit, Laura;
Ringot, Maud;
Bourgeois, Thomas;
Ramanantsoa, Nelina;
Delclaux, Christophe;
Dauger, Stéphane;
d'Ortho, Marie-Pia;
Thoby-Brisson, Muriel;
Gallego, Jorge;
Matrot, Boris

Publication type:

journal article

Alternative methods of lung isolation in cases of pediatric bilateral thoracoscopic surgery.

Published in:

Pediatric Anesthesia, 2016, v. 26, n. 12, p. 1209, doi. 10.1111/pan.13012

By:

Wigginton, Mark;
Lehrian, Laura;
Polaner, David

Publication type:

Article

Maxillary Hypoplasia and Non-Invasive Ventilation: Literature Review and Proposed New Treatment Protocol.

Published in:

Children, 2024, v. 11, n. 6, p. 720, doi. 10.3390/children11060720

By:

Meazzini, Maria Costanza;
Moretti, Mattia;
Canzi, Gabriele;
Sozzi, Davide;
Novelli, Giorgio;
Mazzoleni, Fabio

Publication type:

Article

Wearable Wake-up System for CCHS Patients.

Published in:

Current Directions in Biomedical Engineering, 2022, v. 8, n. 2, p. 245, doi. 10.1515/cdbme-2022-1063

By:

Mayer, Juliane;
Junger, Philipp;
Hokenmaier, Lukas;
Pott, Peter P.

Publication type:

Article

Congenital central hypoventilation syndrome and intestinal aganglionosis: A case report.

Published in:

South African Journal of Child Health, 2013, v. 7, n. 4, p. 157, doi. 10.7196/SAJCH.625

By:

Ramdin, T.;
Davies, V.

Publication type:

Article

Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the <i>PHOX2B</i> gene.

Published in:

Sleep & Breathing, 2013, v. 17, n. 4, p. 1275, doi. 10.1007/s11325-013-0833-4

By:

Lavezzi, Anna Maria;
Casale, Valentina;
Oneda, Roberta;
Gioventù, Silvia;
Matturri, Luigi;
Farronato, Giampietro

Publication type:

Article

Challenges in congenital central hypoventilation syndrome (Ondine's curse) on pregnancy: a case report.

Published in:

2017

By:

Souza, Renato Teixeira;
Campanharo, Felipe Favorette;
Araujo Júnior, Edward;
Moreira, Gustavo Antonio;
Mazzotti, Diego Robles;
Mattar, Rosiane;
Moron, Antonio Fernandes;
Coelho, Fernando Morgadinho Santos

Publication type:

journal article

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.

Published in:

Oncogene, 2014, v. 33, n. 25, p. 3316, doi. 10.1038/onc.2013.290

By:

Wang, W.;
Zhong, Q.;
Teng, L.;
Bhatnagar, N.;
Sharma, B.;
Zhang, X.;
Luther II, W.;
Haynes, L. P.;
Burgoyne, R. D.;
Vidal, M.;
Volchenboum, S.;
Hill, D. E.;
George, R. E.

Publication type:

Article

Clinical Features of COVID-19 in Patients with Congenital Central Hypoventilation Syndrome.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2023, v. 36, n. 2, p. 52, doi. 10.1089/ped.2023.0004

By:

Kasi, Ajay S.;
Riccitelli, Melinda;
Kun, Sheila S.;
Westbrook, Adrianna L.;
Silva, George L.;
Keens, Thomas G.;
Guglani, Lokesh

Publication type:

Article

Annual Respiratory Evaluations in Congenital Central Hypoventilation Syndrome and Changes in Ventilatory Management.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2021, v. 34, n. 3, p. 97, doi. 10.1089/ped.2021.0072

By:

Shah, Amit S.;
Leu, Roberta M.;
Keens, Thomas G.;
Kasi, Ajay S.

Publication type:

Article

Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series.

Published in:

2013

By:

Bygarski, Elizabeth;
Paterson, Melanie;
Lemire, Edmond G.

Publication type:

journal article

Central Congenital Hypoventilation Syndrome: Avoiding Hypoxemia.

Published in:

International Student Journal of Nurse Anesthesia, 2017, v. 16, n. 3, p. 14

By:

Izzo, Jill

Publication type:

Article

Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience.

Published in:

Pediatric Surgery International, 2012, v. 28, n. 12, p. 1211, doi. 10.1007/s00383-012-3214-3

By:

Hallal, Cristiane;
Kieling, Carlos;
Nunes, Daltro;
Ferreira, Cristina;
Peterson, Guilherme;
Barros, Sérgio;
Arruda, Cristina;
Fraga, José;
Goldani, Helena

Publication type:

Article

Effects of nasal continuous positive airway pressure therapy on partners' sexual lives.

Published in:

European Archives of Oto-Rhino-Laryngology, 2016, v. 273, n. 1, p. 133, doi. 10.1007/s00405-015-3546-4

By:

Acar, Mustafa;
Kaya, Coskun;
Catli, Tolgahan;
Hancı, Deniz;
Bolluk, Ozge;
Aydin, Yunus

Publication type:

Article

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.

Published in:

Acta Neuropathologica, 2015, v. 130, n. 2, p. 171, doi. 10.1007/s00401-015-1441-0

By:

Nobuta, Hiroko;
Cilio, Maria;
Danhaive, Olivier;
Tsai, Hui-Hsin;
Tupal, Srinivasan;
Chang, Sandra;
Murnen, Alice;
Kreitzer, Faith;
Bravo, Verenice;
Czeisler, Catherine;
Gokozan, Hamza;
Gygli, Patrick;
Bush, Sean;
Weese-Mayer, Debra;
Conklin, Bruce;
Yee, Siu-Pok;
Huang, Eric;
Gray, Paul;
Rowitch, David;
Otero, José

Publication type:

Article

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Published in:

Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0636-8

By:

Paglietti, Maria Giovanna;
Cherchi, Claudio;
Porcaro, Federica;
Agolini, Emanuele;
Schiavino, Alessandra;
Petreschi, Francesca;
Novelli, Antonio;
Cutrera, Renato

Publication type:

Article