Literature DB >> 819054

Malformation syndromes. A selected miscellany.

R J Gorlin, J Cervenka, K Moller, M Horrobin, C J Witkop.   

Abstract

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Year:  1975        PMID： 819054

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  30 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.  Mutations in PIK3R1 cause SHORT syndrome.

Authors:  David A Dyment; Amanda C Smith; Diana Alcantara; Jeremy A Schwartzentruber; Lina Basel-Vanagaite; Cynthia J Curry; I Karen Temple; William Reardon; Sahar Mansour; Mushfequr R Haq; Rodney Gilbert; Ordan J Lehmann; Megan R Vanstone; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Kym M Boycott; A Micheil Innes
Journal:  Am J Hum Genet       Date:  2013-06-27       Impact factor: 11.025

Review 3.  Replication proteins and human disease.

Authors:  Andrew P Jackson; Ronald A Laskey; Nicholas Coleman
Journal:  Cold Spring Harb Perspect Biol       Date:  2014-01-01       Impact factor: 10.005

4.  Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

Authors:  Duane L Guernsey; Makoto Matsuoka; Haiyan Jiang; Susan Evans; Christine Macgillivray; Mathew Nightingale; Scott Perry; Meghan Ferguson; Marissa LeBlanc; Jean Paquette; Lysanne Patry; Andrea L Rideout; Aidan Thomas; Andrew Orr; Chris R McMaster; Jacques L Michaud; Cheri Deal; Sylvie Langlois; Duane W Superneau; Sandhya Parkash; Mark Ludman; David L Skidmore; Mark E Samuels
Journal:  Nat Genet       Date:  2011-02-27       Impact factor: 38.330

5.  A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.

Authors:  Wei Zhang; Saumya Sankaran; Or Gozani; Jikui Song
Journal:  ACS Chem Biol       Date:  2015-02-24       Impact factor: 5.100

6.  Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Authors:  Tuba Dinçer; Gülden Yorgancıoğlu-Budak; Akgün Ölmez; İdris Er; Yavuz Dodurga; Özmert Ma Özdemir; Bayram Toraman; Adem Yıldırım; Nuran Sabir; Nurten A Akarsu; C Nur Semerci; Ersan Kalay
Journal:  Eur J Hum Genet       Date:  2017-08-23       Impact factor: 4.246

7.  Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.

Authors:  Marie H Solheim; Jonathon N Winnay; Thiago M Batista; Anders Molven; Pål R Njølstad; C Ronald Kahn
Journal:  Diabetes       Date:  2018-05-03       Impact factor: 9.461

Review 8.  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

Review 9.  Diseases associated with defective responses to DNA damage.

Authors:  Mark O'Driscoll
Journal:  Cold Spring Harb Perspect Biol       Date:  2012-12-01       Impact factor: 10.005

10.  Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Authors:  Ghayda M Mirzaa; Benjamin Vitre; Gillian Carpenter; Iga Abramowicz; Joseph G Gleeson; Alex R Paciorkowski; Don W Cleveland; William B Dobyns; Mark O'Driscoll
Journal:  Hum Genet       Date:  2014-04-20       Impact factor: 4.132
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