Literature DB >> 19974019

Acrocephaly, with other Congenital Malformations.

G Carpenter.   

Abstract

Entities:  

Year:  1909        PMID： 19974019      PMCID： PMC2047261     

Source DB:  PubMed          Journal:  Proc R Soc Med        ISSN： 0035-9157


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  8 in total

1.  Webbed fingers.

Authors:  Adrian E Flatt
Journal:  Proc (Bayl Univ Med Cent)       Date:  2005-01

2.  Carpenter's syndrome: a rare craniofacial dysmorphic syndrome.

Authors:  Abrar A Wani; Tanveer I Dar; Au Ramzan; Altaf Ali
Journal:  Indian J Pediatr       Date:  2009-09       Impact factor: 1.967

3.  Carpenter syndrome with normal intelligence and precocious growth.

Authors:  J White; D B Boldt; D J David; L Sheffield; D A Simpson
Journal:  Acta Neurochir (Wien)       Date:  1981       Impact factor: 2.216

4.  A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Authors:  S Ben-Salem; M A Begum; B R Ali; L Al-Gazali
Journal:  Mol Syndromol       Date:  2012-12-01

5.  RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Authors:  Dagan Jenkins; Dominik Seelow; Fernanda S Jehee; Chad A Perlyn; Luis G Alonso; Daniela F Bueno; Dian Donnai; Dragana Josifova; Dragana Josifiova; Irene M J Mathijssen; Jenny E V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nurnberg; Maria Rita Passos-Bueno; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2007-04-18       Impact factor: 11.025

6.  RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1.

Authors:  Md Rakibul Hasan; Maarit Takatalo; Hongqiang Ma; Ritva Rice; Tuija Mustonen; David Pc Rice
Journal:  Elife       Date:  2020-07-14       Impact factor: 8.140

7.  Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Authors:  Stephen R F Twigg; Deborah Lloyd; Dagan Jenkins; Nursel E Elçioglu; Christopher D O Cooper; Nouriya Al-Sannaa; Ali Annagür; Gabriele Gillessen-Kaesbach; Irina Hüning; Samantha J L Knight; Judith A Goodship; Bernard D Keavney; Philip L Beales; Opher Gileadi; Simon J McGowan; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2012-10-11       Impact factor: 11.025

8.  Complex craniosynostosis in the context of Carpenter's syndrome.

Authors:  Fah Bouaré; Mohammad Hassan A Noureldine; Farouk Hajhouji; Houssine Ghannane; George I Jallo; Said Ait Benali
Journal:  Childs Nerv Syst       Date:  2021-07-09       Impact factor: 1.475
  8 in total

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