Literature DB >> 13672525

[Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)].

Z MEIER, M ROTHSCHILD.   

Abstract

Entities:  

Keywords:  FACIAL BONES/abnormalities; JOINTS/abnormalities

Mesh：

Year:  1959        PMID： 13672525

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


× No keyword cloud information.
  10 in total

1.  Microtia, absent patellae, short stature, micrognathia syndrome.

Authors:  R J Gorlin
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

Authors:  Sonja A de Munnik; Louise S Bicknell; Salim Aftimos; Jumana Y Al-Aama; Yolande van Bever; Michael B Bober; Jill Clayton-Smith; Alaa Y Edrees; Murray Feingold; Alan Fryer; Johanna M van Hagen; Raoul C Hennekam; Maaike C E Jansweijer; Diana Johnson; Sarina G Kant; John M Opitz; A Radha Ramadevi; Willie Reardon; Alison Ross; Pierre Sarda; Constance T R M Schrander-Stumpel; Jeroen Schoots; I Karen Temple; Paulien A Terhal; Annick Toutain; Carol A Wise; Michael Wright; David L Skidmore; Mark E Samuels; Lies H Hoefsloot; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

Review 3.  Primordial dwarfism: overview of clinical and genetic aspects.

Authors:  Preeti Khetarpal; Satrupa Das; Inusha Panigrahi; Anjana Munshi
Journal:  Mol Genet Genomics       Date:  2015-09-01       Impact factor: 3.291

4.  De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Authors:  Lindsay C Burrage; Wu-Lin Charng; Mohammad K Eldomery; Jason R Willer; Erica E Davis; Dorien Lugtenberg; Wenmiao Zhu; Magalie S Leduc; Zeynep C Akdemir; Mahshid Azamian; Gladys Zapata; Patricia P Hernandez; Jeroen Schoots; Sonja A de Munnik; Ronald Roepman; Jillian N Pearring; Shalini Jhangiani; Nicholas Katsanis; Lisenka E L M Vissers; Han G Brunner; Arthur L Beaudet; Jill A Rosenfeld; Donna M Muzny; Richard A Gibbs; Christine M Eng; Fan Xia; Seema R Lalani; James R Lupski; Ernie M H F Bongers; Yaping Yang
Journal:  Am J Hum Genet       Date:  2015-12-03       Impact factor: 11.025

5.  Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Authors:  Louise S Bicknell; Ernie M H F Bongers; Andrea Leitch; Stephen Brown; Jeroen Schoots; Margaret E Harley; Salim Aftimos; Jumana Y Al-Aama; Michael Bober; Paul A J Brown; Hans van Bokhoven; John Dean; Alaa Y Edrees; Murray Feingold; Alan Fryer; Lies H Hoefsloot; Nikolaus Kau; Nine V A M Knoers; James Mackenzie; John M Opitz; Pierre Sarda; Alison Ross; I Karen Temple; Annick Toutain; Carol A Wise; Michael Wright; Andrew P Jackson
Journal:  Nat Genet       Date:  2011-02-27       Impact factor: 38.330

6.  Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.

Authors:  Joseph C Sanchez; Elizabeth X Kwan; Thomas J Pohl; Haley M Amemiya; M K Raghuraman; Bonita J Brewer
Journal:  PLoS Genet       Date:  2017-10-16       Impact factor: 5.917

7.  Tissue-Specific DNA Replication Defects in Drosophila melanogaster Caused by a Meier-Gorlin Syndrome Mutation in Orc4.

Authors:  Stephen L McDaniel; Allison J Hollatz; Anna M Branstad; Marissa M Gaskill; Catherine A Fox; Melissa M Harrison
Journal:  Genetics       Date:  2019-12-09       Impact factor: 4.562

8.  Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case.

Authors:  Rahim Vakili; Moein Mobini; Farbod Hatami; Saba Vakili; Niloufar Valizadeh
Journal:  Radiol Case Rep       Date:  2022-03-04

Review 9.  The origin recognition complex in human diseases.

Authors:  Zhen Shen
Journal:  Biosci Rep       Date:  2013-06-11       Impact factor: 3.840

Review 10.  Meier-Gorlin syndrome.

Authors:  Sonja A de Munnik; Elisabeth H Hoefsloot; Jolt Roukema; Jeroen Schoots; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123
  10 in total

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