Literature DB >> 3322001

G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography.

J M Opitz1.   

Abstract

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Year:  1987        PMID： 3322001     DOI： 10.1002/ajmg.1320280203

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  9 in total

1.  Townes-Brocks syndrome.

Authors:  R König; U Schick; S Fuchs
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

Review 2.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

3.  Hedgehog-dependent E3-ligase Midline1 regulates ubiquitin-mediated proteasomal degradation of Pax6 during visual system development.

Authors:  Thorsten Pfirrmann; Enrico Jandt; Swantje Ranft; Ashwin Lokapally; Herbert Neuhaus; Muriel Perron; Thomas Hollemann
Journal:  Proc Natl Acad Sci U S A       Date:  2016-08-23       Impact factor: 11.205

Review 4.  The MID1 gene product in physiology and disease.

Authors:  Rossella Baldini; Martina Mascaro; Germana Meroni
Journal:  Gene       Date:  2020-04-10       Impact factor: 3.688

5.  Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?

Authors:  G Wolff; E Zimmermann; B Zimmerhackl; C Harnasch; C Jung; E Back
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

6.  MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.

Authors:  Kieran M Short; Blair Hopwood; Zou Yi; Timothy C Cox
Journal:  BMC Cell Biol       Date:  2002-01-04       Impact factor: 4.241

7.  Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant.

Authors:  Lifen Chen; Junqi Wang; Wenli Lu; Yuan Xiao; Jihong Ni; Wei Wang; Xiaoyu Ma; Zhiya Dong
Journal:  Front Genet       Date:  2021-06-30       Impact factor: 4.599

8.  Reduced Mid1 Expression and Delayed Neuromotor Development in daDREAM Transgenic Mice.

Authors:  Mara Dierssen; Laura Fedrizzi; Rosa Gomez-Villafuertes; María Martinez de Lagran; Alfonso Gutierrez-Adan; Ignasi Sahún; Belen Pintado; Juan C Oliveros; Xose M Dopazo; Paz Gonzalez; Marisa Brini; Britt Mellström; Ernesto Carafoli; Jose R Naranjo
Journal:  Front Mol Neurosci       Date:  2012-05-03       Impact factor: 5.639

9.  Widely variable endogenous retroviral methylation levels in human placenta.

Authors:  Daphne Reiss; Ying Zhang; Dixie L Mager
Journal:  Nucleic Acids Res       Date:  2007-07-07       Impact factor: 16.971
  9 in total

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