Literature DB >> 13180428

[Abnormalities of the buccal frena].

J PSAUME.   

Abstract

Keywords:  ABNORMALITIES; FACE/abnormalities

Mesh：

Year:  1954        PMID： 13180428

Source DB:  PubMed          Journal:  Actual Odontostomatol (Paris)        ISSN： 0001-7817


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  9 in total

1.  Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.

Authors:  K PATAU; E THERMAN; S L INHORN; D W SMITH; A L RUESS
Journal:  Chromosoma       Date:  1961       Impact factor: 4.316

2.  [Contribution to the genetics of the orofaciodigital syndrome].

Authors:  A Stahl; W Fuhrmann; T M Schroeder
Journal:  Fortschr Kieferorthop       Date:  1965

3.  [The differential diagnosis of Papillon-Lénge-Psaume-syndrome and Mohr's syndrome].

Authors:  W Fuhrmann; A Stahl
Journal:  Humangenetik       Date:  1970

4.  Cerebral abnormalities in the oral-facial-digital syndrome.

Authors:  B P Wood; L W Young; P L Townes
Journal:  Pediatr Radiol       Date:  1975-06-13

5.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

Authors:  A A Connacher; C C Forsyth; W K Stewart
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

7.  Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

Authors:  Hanan E Shamseldin; Anna Rajab; Amal Alhashem; Ranad Shaheen; Tarfa Al-Shidi; Rana Alamro; Salma Al Harassi; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2013-08-22       Impact factor: 11.025

8.  Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia.

Authors:  Binyi Yang; Cheng Lei; Danhui Yang; Chenyang Lu; Yingjie Xu; Lin Wang; Ting Guo; Rongchun Wang; Hong Luo
Journal:  Pharmgenomics Pers Med       Date:  2022-07-11

Review 9.  The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Authors:  William B Hannah; Suzanne DeBrosse; BreAnna Kinghorn; Steven Strausbaugh; Moira L Aitken; Margaret Rosenfeld; Whitney E Wolf; Michael R Knowles; Maimoona A Zariwala
Journal:  Mol Genet Genomic Med       Date:  2019-08-01       Impact factor: 2.183
  9 in total

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