Literature DB >> 14217223

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

V A MCKUSICK, J A EGELAND, R ELDRIDGE, D E KRUSEN.   

Abstract

Entities:  

Keywords:  ACHONDROPLASIA; ADOLESCENCE; CHILD; CONSANGUINITY; ELLIS-VAN CREVELD SYNDROME; GENETICS, HUMAN; HEART DEFECTS, CONGENITAL; INFANT; PATHOLOGY; RADIOGRAPHY; TOOTH ABNORMALITIES

Mesh：

Year:  1964        PMID： 14217223

Source DB:  PubMed          Journal:  Bull Johns Hopkins Hosp        ISSN： 0097-1383


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  66 in total

1.  PYRUVATE KINASE DEFICIENT HEMOLYTIC ANEMIA IN AN AMISH ISOLATE.

Authors:  H S BOWMAN; V A MCKUSICK; K R DRONAMRAJU
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2.  Tetralogy of fallot and congenital connection between the left subclavian artery and the pulmonary artery: possible relationship to a congenital left-hand deformity.

Authors:  J T Bricker; M R Nihill; D G McNamara
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3.  Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.

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Journal:  J Dent Res       Date:  2017-01-12       Impact factor: 6.116

Review 4.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
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5.  Segregation of the Ellis-van Creveld Syndrome as Analyzed by the First Appearance Method.

Authors:  C C Li
Journal:  Am J Hum Genet       Date:  1965-07       Impact factor: 11.025

6.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

7.  Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome.

Authors:  Dennis S Weiner; David Jonah; Bonnie Leighley; Martin S Dicintio; D Holmes Morton; Steven Kopits
Journal:  J Child Orthop       Date:  2013-11-08       Impact factor: 1.548

8.  A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly.

Authors:  R Martínez y Martínez; E Corona-Rivera; M Jiménez-Martínez; R Ocampo-Campos; S García-Maravilla; J M Cantú
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

9.  Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Authors:  Roxann G Ingersoll; Jacqueline Hetmanski; Ji-Wan Park; M Daniele Fallin; Iain McIntosh; Yah-Huei Wu-Chou; Philip K Chen; Vincent Yeow; Samuel S Chong; Felicia Cheah; Jae Woong Sull; Sun Ha Jee; Hong Wang; Tao Wu; Tanda Murray; Shangzhi Huang; Xiaoqian Ye; Ethylin Wang Jabs; Richard Redett; Gerald Raymond; Alan F Scott; Terri H Beaty
Journal:  Eur J Hum Genet       Date:  2010-01-20       Impact factor: 4.246

Review 10.  Cranioectodermal dysplasia (Sensenbrenner's syndrome).

Authors:  I D Young
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318
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