Skip to search formSkip to main contentSkip to account menu

Pierre Robin Syndrome

Known as: pierre robins syndrome, pierre robin's syndrome, Pierre-robin malformation 
Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in… 
National Institutes of Health

Related topics

Related topics

32 relations
Andersen SyndromeCAMPOMELIC DYSPLASIACorpus Callosum, Agenesis of, with Facial Anomalies and Robin SequenceGlycogen Storage Disease XIV

Narrower (12)

Catel Manzke syndromeChitayat Meunier Hodgkinson syndromeFemoral hypoplasia - unusual facies syndromeMyopathy, congenital nonprogressive with Moebius and Robin sequences

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
GenBank
GenBank® (www.ncbi.nlm.nih.gov/genbank/) is a comprehensive database that contains publicly available nucleotide sequences for… 
Highly Cited
1997
Highly Cited
1997
Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells
Mutation of the XRCC4 gene in mammalian cells prevents the formation of the signal and coding joints in the V(D)J recombination… 
Highly Cited
1996
Highly Cited
1996
Does this have a familiar RING?
Highly Cited
1994
Highly Cited
1994
DNA sequence requirements for transcriptional initiator activity in mammalian cells.
A transcriptional initiator (Inr) for mammalian RNA polymerase II can be defined as a DNA sequence element that overlaps a… 
Highly Cited
1993
Highly Cited
1993
Signal sequence trap: a cloning strategy for secreted proteins and type I membrane proteins.
A method was developed to clone, without the use of specific functional assays, complementary DNAs (cDNAs) that carry specific… 
Highly Cited
1993
Highly Cited
1993
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.
Single-strand conformation polymorphism (SSCP) analysis has proven to be a simple and effective technique for the detection of… 
Highly Cited
1992
Highly Cited
1992
Sequence identification of 2,375 human brain genes
WE recently described a new approach for the rapid characterization of expressed genes by partial DNA sequencing to generate… 
Highly Cited
1990
Highly Cited
1990
Conserved sequence and structural elements in the HIV-1 principal neutralizing determinant.
The principal neutralizing determinant (PND) of human immunodeficiency virus HIV-1 is part of a disulfide bridged loop in the… 
Highly Cited
1982
Highly Cited
1982
Automation of the computer handling of gel reading data produced by the shotgun method of DNA sequencing.
This paper describes a computer method for handling gel reading data produced by the shotgun method of DNA sequencing. The method… 
Highly Cited
1982
Highly Cited
1982
On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)