Works matching DE "CHARGE syndrome"

Results: 122

Auditory Skills following Cochlear Implantation in Children with the Charge Syndrome.

Published in:

2019

By:

Aragón-Ramos, Paula;
Pedrero-Escalas, Maria-Fernanda;
Gavilán, Javier;
Pérez-Mora, Rosa;
Herrán-Martin, Belén;
Lassaletta, Luis

Publication type:

journal article

CHARGE syndrome and common variable immunodeficiency: A case report and review of literature.

Published in:

Pediatric Allergy & Immunology, 2016, v. 27, n. 5, p. 546, doi. 10.1111/pai.12574

By:

Martire, Baldassarre;
Panza, Raffaella;
Pillon, Marta;
Delvecchio, Maurizio

Publication type:

Article

Obstructive Sleep Apnea in a Patient with CHARGE Syndrome.

Published in:

Case Reports in Otolaryngology, 2012, p. 1, doi. 10.1155/2012/907032

By:

Trider, Carrie-Lee;
Blake, Kim

Publication type:

Article

Secondary Glioblastoma Multiform in a Patient with CHARGE Syndrome and Prior Radiation Therapy for Medulloblastoma.

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 4, p. 366, doi. 10.3109/08880018.2014.883002

By:

Gajjar, Shefali;
Mazloom, Ali;
Chintagumpala, Murali;
Mahajan, Anita;
Paulino, Arnold C.

Publication type:

Article

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.

Published in:

Transcription (2154-1264), 2019, v. 10, n. 1, p. 21, doi. 10.1080/21541264.2018.1521213

By:

Bérubé-Simard, Félix-Antoine;
Pilon, Nicolas

Publication type:

Article

The choanal atresia: 13- year experience and a review of the literature: brief report.

Published in:

Tehran University Medical Journal, 2011, v. 69, n. 7, p. 451

By:

Naraghi, Mohsen;
HajarolAsvadi, Nazanin

Publication type:

Article

Isolated left common carotid artery in an infant with pulmonary atresia and intact ventricular septum.

Published in:

Annals of Pediatric Cardiology, 2019, v. 12, n. 2, p. 156, doi. 10.4103/apc.APC_75_18

By:

Cohen, Jennifer L.;
Stanford, Nicole;
Torres, Alejandro

Publication type:

Article

Spontaneous postnatal growth is reduced in children with CHARGE syndrome.

Published in:

Acta Paediatrica, 2015, v. 104, n. 7, p. e314, doi. 10.1111/apa.12980

By:

Dörr, Helmuth G;
Madeja, Julia;
Junghans, Claudia

Publication type:

Article

Developmental disorders: p53 and CHARGE syndrome.

Published in:

Nature Medicine, 2014, v. 20, n. 9, p. 991, doi. 10.1038/nm.3690

By:

Stower, Hannah

Publication type:

Article

Successful intubation using video laryngoscope in a child with CHARGE syndrome - A case report -.

Published in:

Anesthesia & Pain Medicine, 2019, v. 14, n. 1, p. 40, doi. 10.17085/apm.2019.14.1.40

By:

Jeongho Kim;
Jeong In Hong;
Kyoung-lin Chae;
Kyoung Sub Yoon;
Sang Yoong Park;
Seung-Cheol Lee;
Jong-Hwan Lee;
Chan Jong Chung;
So Ron Choi

Publication type:

Article

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.

Published in:

2013

By:

Bouazoune, Karim;
Kingston, Robert E.

Publication type:

Conference Paper/Materials

CHD7 Deficiency in “<i>Looper</i>”, a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment.

Published in:

PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097559

By:

Ogier, Jacqueline M.;
Carpinelli, Marina R.;
Arhatari, Benedicta D.;
Symons, R. C. Andrew;
Kile, Benjamin T.;
Burt, Rachel A.

Publication type:

Article

Identification and Characterization of FAM124B as a Novel Component of a CHD7 and CHD8 Containing Complex.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052640

By:

Batsukh, Tserendulam;
Schulz, Yvonne;
Wolf, Stephan;
Rabe, Tamara I.;
Oellerich, Thomas;
Urlaub, Henning;
Schaefer, Inga-Marie;
Pauli, Silke

Publication type:

Article

Otitis Media in a New Mouse Model for CHARGE Syndrome with a Deletion in the Chd7 Gene.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034944

By:

Cong Tian;
Heping Yu;
Bin Yang;
Fengchan Han;
Ye Zheng;
Bartels, Cynthia F.;
Schelling, Deborah;
Arnold, James E.;
Scacheri, Peter C.;
Qing Yin Zheng

Publication type:

Article

CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024511

By:

Mee Hyun Song;
Hyun-Ju Cho;
Hee Keun Lee;
Tae Jun Kwon;
Won-Sang Lee;
Sanghee Oh;
Jinwoong Bok;
Jae Young Choi;
Un-Kyung Kim

Publication type:

Article

CHARGE Syndrome.

Published in:

2021

By:

Flood, L M

Publication type:

Book Review

The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.

Published in:

Neuroradiology, 2023, v. 65, n. 4, p. 819, doi. 10.1007/s00234-023-03118-9

By:

Lewis, Martin A.;
Juliano, Amy;
Robson, Caroline;
Clement, Emma;
Nash, Robert;
Rajput, Kaukab;
D'Arco, Felice

Publication type:

Article

The Incidence and Outcomes for Children with Cleft Palate and/or Lip and CHARGE Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 620, doi. 10.1177/10556656221134558

By:

Farid, Mohammed;
Cafferky, Louise;
Kirk, Jeremy;
Kershaw, Melanie;
Slator, Rona

Publication type:

Article

Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.

Published in:

Cleft Palate Craniofacial Journal, 2023, v. 60, n. 3, p. 313, doi. 10.1177/10556656211059363

By:

Valiathan, Manish;
DiMassa, Alexander;
Petts, Rebecca;
Bous, Rany;
Apostolopoulos, Konstantinos;
Elshebiny, Tarek

Publication type:

Article

Cleft Lip and Palate in CHARGE Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2018, v. 55, n. 3, p. 342, doi. 10.1177/1055665617738994

By:

Isaac, Kathryn V.;
Ganske, Ingrid M.;
Rottgers, Stephen A.;
Lim, So Young;
Mulliken, John B.

Publication type:

Article

CHARGE Association.

Published in:

2012

By:

Chakraborty, Semanti;
Chakraborty, Jayanta

Publication type:

Case Study

A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report.

Published in:

2018

By:

Riedijk, M. A.;
König-Jung, A. M.;
van Woensel, J. B. M.;
Kruisinga, F. H.;
König-Jung, A M

Publication type:

journal article

CHARGE syndrome gastrointestinal involvement: from mouth to anus.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 10, doi. 10.1111/cge.12892

By:

Hudson, A.;
Macdonald, M.;
Friedman, J.N.;
Blake, K.

Publication type:

Article

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 201, doi. 10.1111/cge.12115

By:

Cappuccio, G.;
Ginocchio, V.M.;
Maffè, A.;
Ungari, S.;
Andria, G.;
Melis, D.

Publication type:

Article

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Published in:

Clinical Genetics, 2013, v. 83, n. 4, p. 352, doi. 10.1111/j.1399-0004.2012.01930.x

By:

Pauws, E;
Peskett, E;
Boissin, C;
Hoshino, A;
Mengrelis, K;
Carta, E;
Abruzzo, MA;
Lees, M;
Moore, GE;
Erickson, RP;
Stanier, P

Publication type:

Article

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 2, p. 125, doi. 10.1111/j.1399-0004.2012.01884.x

By:

Husu, E;
Hove, HD;
Farholt, S;
Bille, M;
Tranebjærg, L;
Vogel, I;
Kreiborg, S

Publication type:

Article

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 234, doi. 10.1111/j.1399-0004.2011.01701.x

By:

Pauli, S;
von Velsen, N;
Burfeind, P;
Steckel, M;
Mänz, J;
Buchholz, A;
Borozdin, W;
Kohlhase, J

Publication type:

Article

50<sup>th</sup> Genetics Corner: A Patient with CHARGE Syndrome Illustrates the Parable of the Six Blind Men and the Elephant.

Published in:

Neonatology Today, 2022, v. 17, n. 6, p. 142, doi. 10.51362/neonatology.today/2022176142145

By:

Hansen, Ashleigh;
Clark, Robin D.

Publication type:

Article

My daughter's nurse gave our family truly personalised, kind care.

Published in:

Nursing Standard, 2017, v. 32, n. 1, p. 65, doi. 10.7748/ns.32.1.65.s48

By:

Chan, Lesley

Publication type:

Article

INFORMATION ON THE LEADING CAUSE OF CONGENITAL DEAFBLINDNESS.

Published in:

2014

By:

Miller, Peter

Publication type:

Journal Article

Understanding CHARGE.

Published in:

2014

By:

Trueland, Jennifer

Publication type:

Journal Article

Cochlear Implantation in Children with CHARGE Syndrome.

Published in:

Cochlear Implants International: An Interdisciplinary Journal, 2010, v. 11, n. 3, p. 170, doi. 10.1002/cii.423

By:

Southwell, Katherine E;
Bird, Philip A;
Murray, Daran P

Publication type:

Article

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

Psychomotor and cognitive impairments of children with CHARGE syndrome: Common and variable features.

Published in:

Child Neuropsychology, 2013, v. 19, n. 5, p. 449, doi. 10.1080/09297049.2012.690372

By:

Lasserre, Elisabeth;
Vaivre-Douret, Laurence;
Abadie, Véronique

Publication type:

Article

Bowen-Conradi Syndrome: A Trisomy 18-like Autosomal Recessive Disorder Common in Hutterites.

Published in:

2015

By:

Torbert, Nic;
Reuter, Suzanne;
Myers, Angela;
De Berg, Kristen;
Crotwell, Patricia L.;
Flanagan, Jason D.

Publication type:

Case Study

Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions.

Published in:

Pediatric Nursing, 2019, v. 45, n. 2, p. 75

By:

Cobert, Lauren T.

Publication type:

Article

Use of Steroid-Eluting Stents after Endoscopic Repair of Choanal Atresia: A Case Series with Review.

Published in:

Annals of Otology, Rhinology & Laryngology, 2020, v. 129, n. 10, p. 1003, doi. 10.1177/0003489420928374

By:

Wilcox, Lyndy J.;
Smith, Matthew M.;
de Alarcon, Alessandro;
Epperson, Madison;
Born, Hayley;
Hart, Catherine K.

Publication type:

Article

A case of Gross E esophageal atresia discovered following a unique clinical course.

Published in:

Journal of Medical Investigation, 2022, v. 69, n. 1/2, p. 141, doi. 10.2152/jmi.69.141

By:

Noriko Yokota;
Hiroki Ishibashi;
Kenichi Suga;
Hiroki Mori;
Akiko Kitamura;
Ryuji Nakagawa;
Mitsuo Shimada

Publication type:

Article

Behavior Phenotype: A Synthesis of Research to Understand Age-Related Change in Behavior in Several Syndromes.

Published in:

Journal of Policy & Practice in Intellectual Disabilities, 2014, v. 11, n. 1, p. 43, doi. 10.1111/jppi.12066

By:

Couzens, Donna

Publication type:

Article

Experiences and Training Needs of Teachers Related to Physical Education for Children with Visual Impairments and Additional Disabilities.

Published in:

Palaestra, 2023, v. 37, n. 2, p. 40

By:

Lieberman, Lauren J.;
Beach, Pamela;
Grenier, Michelle;
Hand, Karen E.;
Perreault, Melanie

Publication type:

Article

Gross Motor Assessment Results and Placement in Physical Education of Five Students with CHARGE Syndrome.

Published in:

Palaestra, 2020, v. 34, n. 3, p. 27

By:

Hilgenbrinck, Linda;
Cavanaugh, Lauren;
Lieberman, Lauren J.

Publication type:

Article

Participation in and Barriers to Recreation Participation in CHARGE Syndrome.

Published in:

Palaestra, 2020, v. 34, n. 1, p. 38

By:

Imel, Gretchen E.;
Slavin, Lillian J.;
Hartshorne, Timothy S.;
Kanouse, Sandra K.

Publication type:

Article

Constraints Model for Improving Motor Skills in Children with CHARGE Syndrome.

Published in:

Palaestra, 2019, v. 33, n. 2, p. 39

By:

Foster, Elizabeth A.;
Lieberman, Lauren J.;
Perreault, Melanie;
Haibach-Beach, Pamela S.

Publication type:

Article

Physical Education for children With CHARGE Syndrome.

Published in:: Adapted Physical Activity Quarterly, 2012, v. 29, n. 4, p. 373
Publication type:: Article

CHARGE syndrome: a review of the immunological aspects.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1451, doi. 10.1038/ejhg.2015.7

By:

Wong, Monica TY;
Schölvinck, Elisabeth H;
Lambeck, Annechien JA;
van Ravenswaaij-Arts, Conny MA

Publication type:

Article

Clinical utility gene card for: CHARGE syndrome - update 2015.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.15

By:

van Ravenswaaij-Arts, Conny MA;
Blake, Kim;
Hoefsloot, Lies;
Verloes, Alain

Publication type:

Article

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01341-3

By:

Consales, Alessandra;
Crippa, Beatrice Letizia;
Colombo, Lorenzo;
Villa, Roberta;
Menni, Francesca;
Giavoli, Claudia;
Mosca, Fabio;
Bedeschi, Maria Francesca

Publication type:

Article

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

Published in:

BMC Endocrine Disorders, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12902-023-01373-8

By:

Obata, Yoshinari;
Takayama, Kana;
Nishikubo, Hideyuki;
Tobimatsu, Aoki;
Matsuda, Izumi;
Uehara, Yuhei;
Maruo, Yumiko;
Sho, Hiroyuki;
Kosugi, Motohiro;
Yasuda, Tetsuyuki

Publication type:

Article

The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.

Published in:

2017

By:

Whittaker, Danielle E.;
Riegman, Kimberley L.H.;
Kasah, Sahrunizam;
Mohan, Conor;
Tian Yu;
Sala, Blanca Pijuan;
Hebaishi, Husam;
Caruso, Angela;
Marques, Ana Claudia;
Michetti, Caterina;
Smachetti, María Eugenia Sanz;
Shah, Apar;
Sabbioni, Mara;
Kulhanci, Omer;
Wee-Wei Tee;
Reinberg, Danny;
Scattoni, Maria Luisa;
Volk, Holger;
McGonnell, Imelda;
Wardle, Fiona C.

Publication type:

journal article

From the Editor's Desk: Happy Summer.

Published in:

Ochsner Journal, 2016, v. 16, n. 2, p. 109

By:

Amedee, Ronald G.

Publication type:

Article