Literature DB >> 1640440

Microtia, absent patellae, short stature, micrognathia syndrome.

R J Gorlin.   

Abstract

Entities:  

Mesh：

Year:  1992        PMID： 1640440      PMCID： PMC1016043     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

Authors:  J A Hurst; R M Winter; M Baraitser
Journal:  Am J Med Genet       Date:  1988-01

2.  Malformation syndromes. A selected miscellany.

Authors:  R J Gorlin; J Cervenka; K Moller; M Horrobin; C J Witkop
Journal:  Birth Defects Orig Artic Ser       Date:  1975

3.  Microtia and short stature: a new syndrome.

Authors:  B Cohen; I K Temple; J C Symons; C M Hall; D G Shaw; M Bhamra; A M Jackson; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

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

Authors:  Z MEIER; M ROTHSCHILD
Journal:  Helv Paediatr Acta       Date:  1959-06
  4 in total
  6 in total

Review 1.  Regulation of DNA replication during development.

Authors:  Jared Nordman; Terry L Orr-Weaver
Journal:  Development       Date:  2012-02       Impact factor: 6.868

2.  Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

Authors:  Louise S Bicknell; Sarah Walker; Anna Klingseisen; Tom Stiff; Andrea Leitch; Claudia Kerzendorfer; Carol-Anne Martin; Patricia Yeyati; Nouriya Al Sanna; Michael Bober; Diana Johnson; Carol Wise; Andrew P Jackson; Mark O'Driscoll; Penny A Jeggo
Journal:  Nat Genet       Date:  2011-02-27       Impact factor: 38.330

3.  Diminished origin-licensing capacity specifically sensitizes tumor cells to replication stress.

Authors:  Kristin M Zimmerman; Rebecca M Jones; Eva Petermann; Penelope A Jeggo
Journal:  Mol Cancer Res       Date:  2013-01-30       Impact factor: 5.852

4.  Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

Authors:  Tomoo Ogi; Sarah Walker; Tom Stiff; Emma Hobson; Siripan Limsirichaikul; Gillian Carpenter; Katrina Prescott; Mohnish Suri; Philip J Byrd; Michiko Matsuse; Norisato Mitsutake; Yuka Nakazawa; Pradeep Vasudevan; Margaret Barrow; Grant S Stewart; A Malcolm R Taylor; Mark O'Driscoll; Penny A Jeggo
Journal:  PLoS Genet       Date:  2012-11-08       Impact factor: 5.917

Review 5.  Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Authors:  Megan Schmit; Anja-Katrin Bielinsky
Journal:  Int J Mol Sci       Date:  2021-01-18       Impact factor: 5.923

6.  Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

Authors:  Tom Stiff; Meryem Alagoz; Diana Alcantara; Emily Outwin; Han G Brunner; Ernie M H F Bongers; Mark O'Driscoll; Penny A Jeggo
Journal:  PLoS Genet       Date:  2013-03-14       Impact factor: 5.917
  6 in total

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