Works matching DE "ELLIS-van Creveld syndrome"
Results: 83
Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
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- Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2025, v. 55, n. 1, p. 1, doi. 10.4274/tjo.galenos.2024.76574
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- Article
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/528481
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Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.
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- 2017
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- journal article
Clinical manifestations of Ellis-van Creveld syndrome.
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- 2009
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- Case Study
Ellis-van Creveld syndrome: A case report.
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- 2008
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- Case Study
Ellis Van Creveld syndrome.
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- Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2007, p. S5, doi. 10.4103/0970-4388.34737
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- Article
Oral Manifestations in Ellis-van Creveld Syndrome: Report of Five Cases.
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- Pediatric Dentistry, 2004, v. 26, n. 3, p. 277
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- Article
Report of Ellis–Van Creveld Syndrome: A Chondroectodermal Dysplasia.
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- Journal of Advances in Medical & Biomedical Research, 2023, v. 31, n. 145, p. 207, doi. 10.30699/jambs.31.145.207
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- Article
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients.
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- Human Genetics, 2006, v. 120, n. 5, p. 663, doi. 10.1007/s00439-006-0237-7
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- Article
Adult Survival in Ellis-van Creveld Syndrome with Common Atrium -- A Rare Case Report.
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- 2017
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- Case Study
Congenital Heart Disease in an Adult with the Ellis--van Creveld Syndrome.
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- Annals of Internal Medicine, 1962, v. 57, n. 5, p. 829, doi. 10.7326/0003-4819-57-5-829
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- Article
Evc Regulates a Symmetrical Response to Shh Signaling in Molar Development.
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- Journal of Dental Research, 2013, v. 92, n. 3, p. 222, doi. 10.1177/0022034512471826
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- Article
Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases.
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- 2011
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- Report
Nephronophthisis associated with Ellis-van Creveld syndrome.
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- Pediatric Nephrology, 1998, v. 12, n. 1, p. 20, doi. 10.1007/s004670050395
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Ellis-van Creveld Syndrome: A Case Report of Two Brothers.
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- 2016
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- Case Study
Contemporary management of congenital malformations of the heart in infants with Ellis – van Creveld syndrome: a report of nine cases.
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- Cardiology in the Young, 2011, v. 21, n. 2, p. 145, doi. 10.1017/S1047951110001587
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Ellis-van Creveld syndrome: systemic and oral findings.
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- 2012
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- Case Study
Ellis-van Creveld syndrome: its history.
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- Pediatric Radiology, 2013, v. 43, n. 8, p. 1030, doi. 10.1007/s00247-013-2709-y
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- Article
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.
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- Pediatrics International, 2016, v. 58, n. 1, p. 64, doi. 10.1111/ped.12846
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- Article
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
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- Pediatrics International, 2010, v. 52, n. 2, p. 240, doi. 10.1111/j.1442-200X.2009.02953.x
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Patient Report Atypical crossed polydactyly in two siblings with Ellis-van Creveld Syndrome and mild clinical manifestations in close relatives.
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- Pediatrics International, 2004, v. 46, n. 2, p. 184, doi. 10.1046/j.1442-200x.2004.01871.x
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- Article
Ellis-Van Creveld Syndrome with Syndrome X - A Rare Association from the Indian Subcontinent.
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- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 1/2, p. 189, doi. 10.1515/JPEM.2010.23.1-2.189
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- Article
Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.
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- 2010
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- Case Study
Chondroectodermal Dysplasia: A Rare Syndrome.
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- Journal of Dentistry of Tehran University of Medical Sciences, 2014, v. 11, n. 3, p. 361
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- Article
Chondroectodermal Dysplasia: A Rare Syndrome.
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- Journal of Dentistry of Tehran University of Medical Sciences, 2014, v. 11, n. 3, p. 361
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- Article
Severe Hydrocephalus in an Infant with Ellis–van Creveld Syndrome: A Rare Entity.
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- Journal of Pediatric Neurosciences, 2023, v. 18, n. 4, p. 340, doi. 10.4103/jpn.JPN_79_22
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- Article
Severe Hydrocephalus in an Infant with Ellis–van Creveld Syndrome: A Rare Entity.
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- Journal of Pediatric Neurosciences, 2023, v. 18, n. 3, p. 340, doi. 10.4103/jpn.JPN_79_22
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- Article
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
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- Journal of Genetics, 2017, v. 96, n. 6, p. 1005, doi. 10.1007/s12041-017-0868-6
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- Article
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding.
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- 2015
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- journal article
Ellis-van Creveld syndrome with facial hemiatrophy.
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- 2010
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- Case Study
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
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- Molecular Genetics & Genomics, 2016, v. 291, n. 2, p. 863, doi. 10.1007/s00438-015-1151-2
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- Article
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0071-9
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- Article
Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome).
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- Ultrasound in Obstetrics & Gynecology, 2005, v. 25, n. 4, p. 412, doi. 10.1002/uog.1849
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First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis–van Creveld syndrome) with ultrasound.
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- Ultrasound in Obstetrics & Gynecology, 2001, v. 17, n. 1, p. 86, doi. 10.1046/j.1469-0705.2001.00255.x
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- Article
Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case.
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- International Journal of Paediatric Dentistry, 1998, v. 8, n. 2, p. 153, doi. 10.1046/j.1365-263X.1998.00069.x
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- Article
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis.
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- Journal of Clinical Imaging Science, 2012, v. 2, n. 1, p. 1, doi. 10.4103/2156-7514.95432
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Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report.
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- Iranian Journal of Medical Sciences, 2017, v. 42, n. 5, p. 501
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- Article
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome.
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- 2015
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- journal article
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome.
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- Clinical Genetics, 2018, v. 93, n. 3, p. 632, doi. 10.1111/cge.13128
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Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder.
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- Molecular Psychiatry, 2015, v. 20, n. 10, p. 1212, doi. 10.1038/mp.2014.118
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Severe, atypical form of dyschondrosteosis (report of two cases).
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- 2005
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- journal article
Common Pediatric Dental Dilemmas.
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- Clinical Pediatrics, 2008, v. 47, n. 2, p. 99, doi. 10.1177/0009922807305810
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- Article
Ellis-Van Creveld syndrome in siblings: A rare case report.
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- 2016
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- Publication type:
- Case Study
Ellis-van Creveld.
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- 2012
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- Publication type:
- Case Study
Ellis van Creveld syndrome with unusual association of essential infantile esotropia.
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- 2010
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- Publication type:
- Case Study
Erratum to “Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis”.
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- 2000
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- Correction Notice
Ellis-van Creveld syndrome and the Amish.
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- Nature Genetics, 2000, v. 24, n. 3, p. 203, doi. 10.1038/73389
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- Article
Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
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- PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006510
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- Article
Surgical Correction of Common Atrium without Noncardiac Congenital Anomalies.
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- Journal of Cardiac Surgery, 2013, v. 28, n. 5, p. 580, doi. 10.1111/jocs.12202
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- Article
Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach.
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- Case Reports in Dentistry, 2018, p. 1, doi. 10.1155/2018/8631602
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- Publication type:
- Article