Works matching DE "ELLIS-van Creveld syndrome"

Results: 83

Ellis-van Creveld syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. S30, doi. 10.19224/ai2022.S030

By:

Wiesmann, Thomas;
Hönl, Dominik

Publication type:

Article

Anaesthesia recommendations for Ellis-van Creveld syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 2, p. S30, doi. 10.19224/ai2022.S030

By:

Shetty, Deepthi;
Pérez-Andreu, Joaquín

Publication type:

Article

Growth charts for children with Ellis-van Creveld syndrome.

Published in:

2011

By:

Verbeek, Sabine;
Eilers, Paul H. C.;
Lawrence, Kate;
Hennekam, Raoul C. M.;
Versteegh, Florens G. A.

Publication type:

journal article

Severe, atypical form of dyschondrosteosis (report of two cases).

Published in:

2005

By:

Bieganski, Tadeusz;
Bik, Krzysztof;
Cormier-Daire, Valerie;
Huber, Celine;
Nowicki, Grzegorz;
Kozlowski, Kazimierz

Publication type:

journal article

Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome.

Published in:

2015

By:

O’Connor, Matthew J.;
Tang, Xinyu;
Collins, R. Thomas;
O'Connor, Matthew J;
Collins, R Thomas 2nd

Publication type:

journal article

Contemporary management of congenital malformations of the heart in infants with Ellis – van Creveld syndrome: a report of nine cases.

Published in:

Cardiology in the Young, 2011, v. 21, n. 2, p. 145, doi. 10.1017/S1047951110001587

By:

O’Connor, Matthew J.;
Rider, Nicholas L.;
Thomas Collins, R.;
Hanna, Brian D.;
Holmes Morton, D.;
Strauss, Kevin A.

Publication type:

Article

Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 8, p. 645, doi. 10.1038/sj.ejhg.5200507

By:

Krakow, Deborah;
Salazar, Denise;
Wilcox, William R;
Rimoin, David L;
Cohn, Daniel H

Publication type:

Article

Erratum to “Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis”.

Published in:

2000

By:

van den Boogaard, Marie-José H.

Publication type:

Correction Notice

Ellis-van Creveld syndrome and the Amish.

Published in:

Nature Genetics, 2000, v. 24, n. 3, p. 203, doi. 10.1038/73389

By:

McKusick, Victor A

Publication type:

Article

Ellis-van Creveld syndrome with facial hemiatrophy.

Published in:

2010

By:

Bhat, Yasmeen J.;
Baba, Asif Nazir;
Manzoor, Sheikh;
Qayoom, Seema;
Javed, Sheikh;
Ajaz, Hakeem

Publication type:

Case Study

THE ELLIS VAN CREVELD SYNDROME.

Published in:

Long-Term Care Nursing / Pielegniarstwo w Opiece Dlugoterminowej, 2023, v. 8, n. 3, p. 3, doi. 10.19251/pwod/2023.3(1)

By:

Zwierzyńska, Anna;
Świercz, Grzegorz;
Głowacka, Mariola;
Gruszka, Jakub;
Adamczyk-Gruszka, Olga

Publication type:

Article

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0071-9

By:

Ohashi, Ikuko;
Enomoto, Yumi;
Naruto, Takuya;
Tsurusaki, Yoshinori;
Kuroda, Yukiko;
Ishikawa, Hiroshi;
Ohyama, Makiko;
Aida, Noriko;
Nishimura, Gen;
Kurosawa, Kenji

Publication type:

Article

Oral manifestations of Ellis-van Creveld syndrome.

Published in:

Contemporary Clinical Dentistry, 2012, v. 3, n. Supp 1, p. S55, doi. 10.4103/0976-237X.95106

By:

KALASKAR, RITESH;
KALASKAR, ASHITA R.

Publication type:

Article

Ellis-Van Creveld syndrome in siblings: A rare case report.

Published in:

2016

By:

Gokulraj, Sabitha;
Mohan, N.;
Raj, J. Babususai;
Ahamed, S. Yasmeen;
Arokiaraj, C. J. Stephen;
Subbulakshmi, A. Cicilia

Publication type:

Case Study

Ellis-van Creveld.

Published in:

2012

By:

Jayaraj, Dhandabani;
Maheswaran, Thangadurai;
Suresh, Ramamurthy;
Ganapathy, Nalliappan

Publication type:

Case Study

Congenital Heart Disease in an Adult with the Ellis--van Creveld Syndrome.

Published in:

Annals of Internal Medicine, 1962, v. 57, n. 5, p. 829, doi. 10.7326/0003-4819-57-5-829

By:

Tubbs, F. Eugene;
Crevasse, Lamar;
Green Jr., J. Russell

Publication type:

Article

Ellis van Creveld syndrome with unusual association of essential infantile esotropia.

Published in:

2010

By:

Das, D.;
Das, G.;
Mahapatra, T. K. S.;
Biswas, J.

Publication type:

Case Study

Ellis-van Creveld Syndrome and Dyserythropoiesis.

Published in:

Archives of Pathology & Laboratory Medicine, 2005, v. 129, n. 5, p. 680, doi. 10.5858/2005-129-0680-ecsad

By:

Scurlock, Deven;
Ostle, Daniel;
Nguyen, Andy;
Wahed, Amer

Publication type:

Article

Ellis-van Creveld Syndrome: A Report of Two Cases.

Published in:

Pediatric Dermatology, 2001, v. 18, n. 6, p. 485, doi. 10.1046/j.1525-1470.2001.1861994.x

By:

Arya, Latika;
Mendiratta, Vibhu;
Sharma, R.C.;
Solanki, R.S.

Publication type:

Article

THE SYNDROME PAGE.

Published in:

Pediatric Dermatology, 2001, v. 18, n. 1, p. 68

By:

Mallory, Susan B.;
Krafchik, Bernice R.;
Al-Khenaizan, Sultan;
Al-Sannaa, N.;
Teebi, Ahmad S.

Publication type:

Article

Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder.

Published in:

Molecular Psychiatry, 2015, v. 20, n. 10, p. 1212, doi. 10.1038/mp.2014.118

By:

Ginns, E I;
Galdzicka, M;
Elston, R C;
Song, Y E;
Paul, S M;
Egeland, J A

Publication type:

Article

Common Pediatric Dental Dilemmas.

Published in:

Clinical Pediatrics, 2008, v. 47, n. 2, p. 99, doi. 10.1177/0009922807305810

By:

Nield, Linda S.;
Stenger, James P.;
Kamat, Deepak

Publication type:

Article

Adult Survival in Ellis-van Creveld Syndrome with Common Atrium -- A Rare Case Report.

Published in:

2017

By:

RAO, MUGULA SUDHAKAR;
SAHU, DEVAVRATA;
KAREEM, HASHIR;
DEVASIA, TOM;
SHETTY, KISHOR KUMAR

Publication type:

Case Study

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 632, doi. 10.1111/cge.13128

By:

Niceta, M.;
Margiotti, K.;
Digilio, M. C.;
Guida, V.;
Bruselles, A.;
Pizzi, S.;
Ferraris, A.;
Memo, L.;
Laforgia, N.;
Dentici, M. L.;
Consoli, F.;
Torrente, I.;
Ruiz‐perez, V. L.;
Dallapiccola, B.;
Marino, B.;
De Luca, A.;
Tartaglia, M.

Publication type:

Article

Ellis--van Creveld syndrome with facial dysmorphic features in an Egyptian child.

Published in:

Egyptian Journal of Medical Human Genetics, 2010, v. 11, n. 2, p. 181, doi. 10.1016/j.ejmhg.2010.05.001

By:

Shawky, Rabah M.;
Sadik, Doaa I.;
Seifeldin, Neveen S.

Publication type:

Article

Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity.

Published in:

Dental Research Journal, 2016, v. 13, n. 2, p. 193, doi. 10.4103/1735-3327.178213

By:

Sameeulla, Shaik;
Raviraj, Jayam;
Dirasantchu, Suresh;
Venkata, Suman S.

Publication type:

Article

Jeune Syndrome: Considerations for Management of Asphyxiating Thoracic Dystrophy.

Published in:

2013

By:

Poyner, Sabrina E.;
Bradshaw, Wanda T.

Publication type:

Journal Article

CONTINUING EDUCATION.

Published in:: 2013
Publication type:: Journal Article

Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.

Published in:

2010

By:

Aminabadi, Naser A.;
Ebrahimi, Akram;
Oskouei, Sina G.

Publication type:

Case Study

Chondroectodermal Dysplasia: A Rare Syndrome.

Published in:

Journal of Dentistry of Tehran University of Medical Sciences, 2014, v. 11, n. 3, p. 361

By:

Tahririan, Dana;
Eshghi, Alireza;
Givehchian, Pirooz;
Tahririan, Mohammad Ali

Publication type:

Article

Chondroectodermal Dysplasia: A Rare Syndrome.

Published in:

Journal of Dentistry of Tehran University of Medical Sciences, 2014, v. 11, n. 3, p. 361

By:

Tahririan, Dana;
Eshghi, Alireza;
Givehchian, Pirooz;
Tahririan, Mohammad Ali

Publication type:

Article

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Published in:

Journal of Genetics, 2017, v. 96, n. 6, p. 1005, doi. 10.1007/s12041-017-0868-6

By:

UMAIR, MUHAMMAD;
SEIDEL, HEIDE;
AHMED, ISHTIAQ;
ULLAH, ASMAT;
HAACK, TOBIAS B.;
ALHADDAD, BADER;
JAN, ABID;
RAFIQUE, AFZAL;
STROM, TIM M.;
AHMAD, FAROOQ;
MEITINGER, THOMAS;
AHMAD, WASIM

Publication type:

Article

Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.

Published in:

PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006510

By:

Zhang, Honghao;
Kamiya, Nobuhiro;
Tsuji, Takehito;
Takeda, Haruko;
Scott, Greg;
Rajderkar, Sudha;
Ray, Manas K.;
Mochida, Yoshiyuki;
Allen, Benjamin;
Lefebvre, Veronique;
Hung, Irene H.;
Ornitz, David M.;
Kunieda, Tetsuo;
Mishina, Yuji

Publication type:

Article

Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases.

Published in:

2011

By:

Hills, Christine;
Kochilas, Lazaros;
Schimmenti, Lisa;
Moller, James

Publication type:

Report

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients.

Published in:

Human Genetics, 2006, v. 120, n. 5, p. 663, doi. 10.1007/s00439-006-0237-7

By:

Tompson, Stuart W. J.;
Ruiz-Perez, Victor L.;
Blair, Helen J.;
Barton, Stephanie;
Navarro, Victoria;
Robson, Joanne L.;
Wright, Michael J.;
Goodship, Judith A.

Publication type:

Article

Incidence of Carpal Coalition in an Asian Population - Preliminary Findings of a Study on Patients from a Distal Radius Fracture Database.

Published in:

Journal of Hand Surgery (Asian-Pacific Volume), 2017, v. 22, n. 2, p. 156, doi. 10.1142/S0218810417500186

By:

Ong, Sean;
Sechachalam, Sreedharan

Publication type:

Article

Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.

Published in:

Pediatrics International, 2016, v. 58, n. 1, p. 64, doi. 10.1111/ped.12846

By:

Iwakura, Hideo;
Fujii, Katsunori;
Furutani, Yoshiyuki;
Takatani, Tomozumi;
Ebata, Ryota;
Nakanishi, Toshio;
Mitsunaga, Tetsuya;
Saito, Takeshi;
Kishimoto, Takashi;
Yoshida, Hideo;
Shimojo, Naoki

Publication type:

Article

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

Published in:

Pediatrics International, 2010, v. 52, n. 2, p. 240, doi. 10.1111/j.1442-200X.2009.02953.x

By:

Umm-e-Kalsoom;
Wasif, Naveed;
Tariq, Muhammad;
Ahmad, Wasim

Publication type:

Article

Ellis-van Creveld Syndrome Associated with Complete Situs Inversus.

Published in:

Clinical Pediatrics, 1969, v. 8, n. 6, p. 366, doi. 10.1177/000992286900800613

By:

Donlan, Michael A.;
Murphy, John J.;
Brakel, Carl A.

Publication type:

Article

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2025, v. 55, n. 1, p. 1, doi. 10.4274/tjo.galenos.2024.76574

By:

Aksoy, Batuhan;
Tigrel, Gülipek

Publication type:

Article

Ellis-Van Creveld syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 27, doi. 10.1186/1750-1172-2-27

By:

Baujat, Geneviève;
Le Merrer, Martine

Publication type:

Article

Severe Hydrocephalus in an Infant with Ellis–van Creveld Syndrome: A Rare Entity.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 4, p. 340, doi. 10.4103/jpn.JPN_79_22

By:

Kumar, Shwetha P.;
Vaithialingam, Balaji

Publication type:

Article

Severe Hydrocephalus in an Infant with Ellis–van Creveld Syndrome: A Rare Entity.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 3, p. 340, doi. 10.4103/jpn.JPN_79_22

By:

Kumar, Shwetha P.;
Vaithialingam, Balaji

Publication type:

Article

Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach.

Published in:

Case Reports in Dentistry, 2018, p. 1, doi. 10.1155/2018/8631602

By:

Naqash, Talib Amin;
Alshahrani, Ibrahim;
Simasetha, Siripan

Publication type:

Article

Ellis-van Creveld Syndrome: A Case Report of Two Brothers.

Published in:

2016

By:

Baby, Tibin K.;
Pillai, Rekha Krishna;
Bindhu, P. R.;
Thomas, Priya

Publication type:

Case Study

Rare health conditions 40: Gaucher’s disease, Pompe disease, Ellis-Van Creveld syndrome, and Duchenne muscular dystrophy.

Published in:

British Journal of Healthcare Assistants, 2020, v. 14, n. 10, p. 500, doi. 10.12968/bjha.2020.14.10.500

By:

Barber, Chris

Publication type:

Article

Oral Manifestations in Ellis-van Creveld Syndrome: Report of Five Cases.

Published in:

Pediatric Dentistry, 2004, v. 26, n. 3, p. 277

By:

Cahuana, Abel;
Palma, Camila;
Gonzáles, Wilber;
Geán, Esther

Publication type:

Article

Patient Report Atypical crossed polydactyly in two siblings with Ellis-van Creveld Syndrome and mild clinical manifestations in close relatives.

Published in:

Pediatrics International, 2004, v. 46, n. 2, p. 184, doi. 10.1046/j.1442-200x.2004.01871.x

By:

Ökten, Aysenur;
Çakir, Murat;
Orhan, Fazil;
Mungan, Ilke

Publication type:

Article

Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome).

Published in:

Ultrasound in Obstetrics & Gynecology, 2005, v. 25, n. 4, p. 412, doi. 10.1002/uog.1849

By:

Venkat-Raman, N.;
Sebire, N. J.;
Murphy, K. W.;
Carvalho, J. S.;
Hall, C. M.

Publication type:

Article

First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis–van Creveld syndrome) with ultrasound.

Published in:

Ultrasound in Obstetrics & Gynecology, 2001, v. 17, n. 1, p. 86, doi. 10.1046/j.1469-0705.2001.00255.x

By:

Dugoff, L.;
Thieme, G.;
Hobbins, J. C.

Publication type:

Article