Literature DB >> 7294029

A pedigree possible evidence for the metabolic interference hypothesis.

B Rollnick, D Day, R Tissot, C Kaye.   

Abstract

Mesh：

Year:  1981        PMID： 7294029      PMCID： PMC1685125     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  1 in total

1.  Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive.

Authors:  W G Johnson
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025
  1 in total
  8 in total

Review 1.  Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.

Authors:  Nneamaka B Agochukwu; Benjamin D Solomon; Maximilian Muenke
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

Review 2.  Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Authors:  Peter G Farlie; Naomi L Baker; Patrick Yap; Tiong Y Tan
Journal:  Mol Syndromol       Date:  2016-10-29

3.  Craniofrontonasal dysplasia.

Authors:  I D Young
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

4.  C1q nephropathy in two young sisters.

Authors:  Jameela A Kari; Sawsan M Jalalah
Journal:  Pediatr Nephrol       Date:  2007-10-21       Impact factor: 3.714

5.  The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

Authors:  Roman Makarov; Bernhard Steiner; Zoran Gucev; Velibor Tasic; Peter Wieacker; Ilse Wieland
Journal:  BMC Med Genet       Date:  2010-06-17       Impact factor: 2.103

6.  Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Authors:  Stephen R F Twigg; Rui Kan; Christian Babbs; Elena G Bochukova; Stephen P Robertson; Steven A Wall; Gillian M Morriss-Kay; Andrew O M Wilkie
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-27       Impact factor: 11.205

7.  Association of UCP1 genetic polymorphisms with blood pressure among Korean female subjects.

Authors:  Min Ho Cha; Byoung Kab Kang; Dongchul Suh; Kil Soo Kim; Young Yang; Yoosik Yoon
Journal:  J Korean Med Sci       Date:  2008-10       Impact factor: 2.153

8.  Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome.

Authors:  Terren K Niethamer; Teng Teng; Melanie Franco; Yu Xin Du; Christopher J Percival; Jeffrey O Bush
Journal:  PLoS Genet       Date:  2020-02-24       Impact factor: 5.917
  8 in total

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