Works matching Ellis-van Creveld syndrome

Results: 203

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

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

Exotropia in a case of Ellis Van Creveld syndrome: A rare case report.

Published in:

2022

By:

Nayak, Swatishree;
Shrivastava, Ankur;
Shrivastava, Ankur K

Publication type:

journal article

Ellis-van Creveld syndrome: systemic and oral findings.

Published in:

2012

By:

Ribeiro Paranaíba, Lívia Maris;
Moreira Fernandes, Cassandro;
de Aquino, Sibele Nascimento;
Nogueira dos Santos, Luis Antônio;
Martelli-Júnior, Hercílio

Publication type:

Case Study

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

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

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

Ellis-Van Creveld Syndrome with Syndrome X - A Rare Association from the Indian Subcontinent.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 1/2, p. 189, doi. 10.1515/JPEM.2010.23.1-2.189

By:

Shamas, M. Nasir;
Zaman, Raja Sultan;
Mir, Shahnawaz;
Masoodit, Ibrahim;
Ganie, Mohd Ashraf

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 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

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

Clinical manifestations of Ellis-van Creveld syndrome.

Published in:

2009

By:

Vinay, C.;
Reddy, R. Sudhakara;
Uloopi, K. S.;
Sekhar, R. Chandra

Publication type:

Case Study

Ellis-van Creveld syndrome: A case report.

Published in:

2008

By:

B., Shah;
G. P., Sujatha

Publication type:

Case Study

Liver transplantation in Ellis–van Creveld syndrome: A case report.

Published in:

Pediatric Transplantation, 2002, v. 6, n. 3, p. 255, doi. 10.1034/j.1399-3046.2002.01085.x

By:

Black, Dalliah;
Reutter, Jason;
Johnson, Mark;
Fair, Jeffrey;
Woosley, John;
Gerber, David

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

Ellis-van Creveld syndrome: A rare clinical entity.

Published in:

Journal of Oral & Maxillofacial Pathology (0973029X), 2013, v. 17, n. 1, p. 132, doi. 10.4103/0973-029X.110716

By:

Kamal, Reet;
Dahiya, Parveen;
Kaur, Simerpreet;
Bhardwaj, Rohit;
Chaudhary, Karun

Publication type:

Article

Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.

Published in:

Molecular Genetics & Genomics, 2016, v. 291, n. 2, p. 863, doi. 10.1007/s00438-015-1151-2

By:

Shi, Lisong;
Luo, Chunyan;
Ahmed, Mairaj;
Attaie, Ali;
Ye, Xiaoqian

Publication type:

Article

Ellis-van creveld syndrome accompanied by cleft glans penis-epispadias: a case report.

Published in:

2016

By:

Altan, Bilal;
Bulut, Engin Burak;
Çalışkan, Mehmet Bahadır;
Güven, Ahmet;
Sürer, Ilhami;
Demirbağ, Suzi

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 in Grey Alpine Cattle.

Published in:

Veterinary Pathology, 2015, v. 52, n. 5, p. 957, doi. 10.1177/0300985815588610

By:

Muscatello, L. V.;
Benazzi, C.;
Dittmer, K. E.;
Thompson, K. G.;
Murgiano, L.;
Drögemüller, C.;
Avallone, G.;
Gentile, A.;
Edwards, J. F.;
Piffer, C.;
Bolcato, M.;
Brunetti, B.

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

Oral abnormalities in the Ellis-van Creveld syndrome.

Published in:

Indian Journal of Dental Research, 2010, v. 21, n. 1, p. 143, doi. 10.4103/0970-9290.62791

By:

Babaji, Prashant

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

Report of Ellis–Van Creveld Syndrome: A Chondroectodermal Dysplasia.

Published in:

Journal of Advances in Medical & Biomedical Research, 2023, v. 31, n. 145, p. 207, doi. 10.30699/jambs.31.145.207

By:

Goli, Hamideh;
Jalalodini, Alia;
Ansari, Mojgan

Publication type:

Article

Oral manifestations in Ellis-van Creveld syndrome: a case report.

Published in:

2018

By:

Guiguimdé, Wendpouiré Patrice Laurent;
Agoda, Palakina;
Bationo, Raoul;
Kaboré, Wendpoulemdé Aimé Désiré;
Ouattara, Seydou;
Konsem, Tarcissus

Publication type:

Case Study

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

Ellis-van Creveld Syndrome.

Published in:: Clinical Pediatrics, 1966, v. 5, n. 7, p. 431, doi. 10.1177/000992286600500711
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

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

Ellis-van Creveld syndrome: its history.

Published in:

Pediatric Radiology, 2013, v. 43, n. 8, p. 1030, doi. 10.1007/s00247-013-2709-y

By:

Muensterer, Oliver;
Berdon, Walter;
McManus, Chris;
Oestreich, Alan;
Lachman, Ralph;
Cohen, M.;
Done, Stephen

Publication type:

Article

Ellis Van Creveld syndrome.

Published in:

Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2007, p. S5, doi. 10.4103/0970-4388.34737

By:

Shilpy, S.;
Nikhil, M.;
Samir, D.

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

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

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

Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding.

Published in:

2015

By:

Hassona, Y.;
Hamdan, M.;
Shqaidef, A.;
Abu Karaky, A.;
Scully, C.

Publication type:

journal article

Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case.

Published in:

International Journal of Paediatric Dentistry, 1998, v. 8, n. 2, p. 153, doi. 10.1046/j.1365-263X.1998.00069.x

By:

Hunter;
Roberts

Publication type:

Article

Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome).

Published in:

Clinical Pediatrics, 1967, v. 6, n. 1, p. 51, doi. 10.1177/000992286700600115

By:

Reddy, D. Venudhar;
Madenlioglu, Mihal

Publication type:

Article

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

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

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: 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

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Published in:

BMC Medical Genetics, 2010, v. 11, p. 33, doi. 10.1186/1471-2350-11-33

By:

Ali, Bassam R.;
Akawi, Nadia A.;
Chedid, Faris;
Bakir, Mahmood;
Ur Rehman, Moghis;
Rahmani, Aiman;
Al-Gazali, Lihadh

Publication type:

Article

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

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/528481

By:

Valencia, Maria;
Tabet, Lara;
Yazbeck, Nadine;
Araj, Alia;
Ruiz-Perez, Victor L.;
Charaffedine, Khalil;
Fares, Farah;
Badra, Rebecca;
Farra, Chantal

Publication type:

Article

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

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