Literature DB >> 14210999

STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

T C DOEGE, H C THULINE, J H PRIEST, D E NORBY, J S BRYANT.   

Abstract

Keywords:  ABNORMALITIES; CHILD; CHROMOSOME ABNORMALITIES; CLEFT PALATE; FACE; FINGERS; GENETICS, HUMAN; INFANT; INFANT, NEWBORN; MENTAL RETARDATION; MOUTH ABNORMALITIES; PATHOLOGY; TONGUE; TONGUE NEOPLASMS

Mesh：

Year:  1964        PMID： 14210999     DOI： 10.1056/NEJM196411192712101

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  28 in total

1.  Rare case of orofaciodigital syndrome type I.

Authors:  Abhishek Bahadur Singh; Manish Girhotra; Medha Goel; Shilpee Bhatia
Journal:  BMJ Case Rep       Date:  2013-02-14

2.  Lingual hamartoma in an infant: CT and MR imaging.

Authors:  A L Goold; B L Koch; J P Willging
Journal:  AJNR Am J Neuroradiol       Date:  2007-01       Impact factor: 3.825

3.  Polycystic disease of kidney and liver presenting in childhood.

Authors:  H Blyth; B G Ockenden
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

4.  Further observations on a pedigree of the oral-facial-digital syndrome.

Authors:  D C Kernohan; J A Dodge
Journal:  Arch Dis Child       Date:  1969-12       Impact factor: 3.791

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

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

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

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

7.  Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Authors:  Izak J Bisschoff; Christine Zeschnigk; Denise Horn; Brigitte Wellek; Angelika Rieß; Maja Wessels; Patrick Willems; Peter Jensen; Andreas Busche; Jens Bekkebraten; Maya Chopra; Hanne Dahlgaard Hove; Christina Evers; Ketil Heimdal; Ann-Sophie Kaiser; Erdmut Kunstmann; Kristina Lagerstedt Robinson; Maja Linné; Patricia Martin; James McGrath; Winnie Pradel; Katrina E Prescott; Bernd Roesler; Gorazd Rudolf; Ulrike Siebers-Renelt; Nataliya Tyshchenko; Dagmar Wieczorek; Gerhard Wolff; William B Dobyns; Deborah J Morris-Rosendahl
Journal:  Hum Mutat       Date:  2012-10-17       Impact factor: 4.878

8.  Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice.

Authors:  M H Kaufman; H H Chang; J P Shaw
Journal:  J Anat       Date:  1995-06       Impact factor: 2.610

9.  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

10.  Cortical microcystic disease of the kidney with dominant inheritance: a previously undescribed syndrome.

Authors:  S C Melnick; D B Brewer; J S Oldham
Journal:  J Clin Pathol       Date:  1984-05       Impact factor: 3.411
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