 | Joseph A Stofko |
Prominent publications by Joseph A Stofko
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
[ PUBLICATION ]
Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and ...
| Also Ranks for: Robin Sequence | cleft palate | mutations col11a1 | codon mutation | collagen type |
Joseph A Stofko: Influence Statistics
| Concept | World rank |
|---|---|
| patients col11a2 | #40 |
| micrognathia cleft | #59 |
| mutations col11a2 | #65 |
| col11a1 col11a2 | #72 |
| mutation col11a2 | #79 |
| palate micrognathia | #82 |
| mutations col11a1 | #90 |
| col2a1 col11a1 | #99 |
Key People For Robin Sequence
Joseph A Stofko:Expert Impact
Concepts for whichJoseph A Stofkohas direct influence:Robin sequence, Cleft palate, Nonsyndromic cleft palate, Nonsyndromic cleft, Mutations col11a1, Codon mutation, Obstructive apnea, Palate collagen.
Joseph A Stofko:KOL impact
Concepts related to the work of other authors for whichfor which Joseph A Stofko has influence:Pierre robin sequence, Cleft palate, Marshall syndrome, Genes tox3, Chiari malformations, Esophageal atresia, Neural tube.
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