Branchio-oculo-facial and branchio-oto-renal synd... [Clin Genet. 1992] - PubMed

loading

Review Branchio-oculo-facial syndrome: broadening the spectrum. [Am J Med Genet. 1994]
Review Branchio-oculo-facial syndrome: broadening the spectrum.
McCool M, Weaver DD. Am J Med Genet. 1994 Feb 15; 49(4):414-21.
Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis. [Eur J Pediatr. 1992]
Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.
Mazzone D, Milana A, Carpinato C. Eur J Pediatr. 1992 Apr; 151(4):312.
Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree. [Eur J Pediatr. 1994]
Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.
König R, Fuchs S, Dukiet C. Eur J Pediatr. 1994 Jun; 153(6):446-50.
Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities. [J Med Genet. 2002]
Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities.
Trummer T, Müller D, Schulze A, Vogel W, Just W. J Med Genet. 2002 Jan; 39(1):71-3.
Review Further delineation of the branchio-oculo-facial syndrome. [Am J Med Genet. 1995]
Review Further delineation of the branchio-oculo-facial syndrome.
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P. Am J Med Genet. 1995 Mar 13; 56(1):42-59.

TFAP2A mutations result in branchio-oculo-facial syndrome. [Am J Hum Genet. 2008]
TFAP2A mutations result in branchio-oculo-facial syndrome.
Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, et al. Am J Hum Genet. 2008 May; 82(5):1171-7.

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.
Clin Genet. 1992 Apr ;41(4):221-3.

PubMed
From cyclohydrolase to oxidoreductase: discovery of nitrile reductase activity i...
From cyclohydrolase to oxidoreductase: discovery of nitrile reductase activity in a common fold.
Proc Natl Acad Sci U S A. 2005 Mar 22 ;102(12):4264-9. Epub 2005 Mar 14 .

PubMed
Prevalence, geographical distribution and genealogical investigations of mutatio...
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec.
Clin Genet. 1992 Apr ;41(4):206-10.

PubMed
The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formati...
The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation.
Proc Natl Acad Sci U S A. 2005 Mar 22 ;102(12):4330-5. Epub 2005 Mar 14 .

PubMed
Medical findings in outpatients with anorexia nervosa.
Medical findings in outpatients with anorexia nervosa.
Arch Intern Med. 2005 Mar 14 ;165(5):561-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

PubMed