Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2004 1
2014 1
2015 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Orofaciodigital syndrome 8"
Page 1
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM. Romani M, et al. Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19. Hum Genet. 2015. PMID: 25407461 Free PMC article.
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). ...A comparison of mutated vs. non-mutated OFDVI patients showed that preaxi …
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as …
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. Feather SA, et al. Hum Mol Genet. 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163. Hum Mol Genet. 1997. PMID: 9215688
Key features of the oral-facial-digital syndrome type 1 (OFD1) include malformations of the face, oral cavity and digits. ...Therefore, the OFD1 gene product appears to have widespread importance in organogenesis and is essential for fetal survival. We have studied two kin …
Key features of the oral-facial-digital syndrome type 1 (OFD1) include malformations of the face, oral cavity and digits. ...Therefor …
Meningitis due to Haemophilus influenzae type f in an 8-year-old girl with congenital humoral immunodeficiency.
Fickweiler K, Borte M, Fasshauer M, Spencker FB, Handrick W, Rodloff AC. Fickweiler K, et al. Infection. 2004 Apr;32(2):112-5. doi: 10.1007/s15010-004-3040-1. Infection. 2004. PMID: 15057576 Review.
We report on an 8-year-old Haemophilus influenzae type b-vaccinated girl with meningitis due to H. influenzae type f. The girl had an oro-facio-digital syndrome and a hypogammaglobulinemia, obviously predisposing the patient to invasive infections. ...
We report on an 8-year-old Haemophilus influenzae type b-vaccinated girl with meningitis due to H. influenzae type f. The girl had an oro-fa …