Indexed keywords
FIBROBLAST GROWTH FACTOR RECEPTOR 2;
ACROCEPHALOSYNDACTYLY;
ADULT;
ARTICLE;
AUTOSOMAL DOMINANT DISORDER;
CASE REPORT;
CRANIOFACIAL SYNOSTOSIS;
FAMILY HISTORY;
FEMALE;
FETUS;
FETUS ECHOGRAPHY;
GENE MUTATION;
HUMAN;
MIDFACE HYPOPLASIA;
PRENATAL DIAGNOSIS;
PRIORITY JOURNAL;
THUMB MALFORMATION;
TOE MALFORMATION;
ACROCEPHALOSYNDACTYLIA;
ADULT;
CRANIOSYNOSTOSES;
FEMALE;
GESTATIONAL AGE;
HUMANS;
MUTATION;
PREGNANCY;
PRENATAL DIAGNOSIS;
PROGNOSIS;
RECEPTOR PROTEIN-TYROSINE KINASES;
RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1;
RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;
RECEPTORS, FIBROBLAST GROWTH FACTOR;
ULTRASONOGRAPHY, PRENATAL;
1
0029798614
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
Bellus GA, Gaudenz K, Zackai EH, et al. 1996. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14: 174-176.
(1996)
Nat Genet
, vol.14
, pp. 174-176
Bellus, G.A.1
Gaudenz, K.2
Zackai, E.H.3
2
0034483541
Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome
Benacerraf BR, Spiro R, Mitchell AG. 2000. Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. Ultrasound Obstet Gynecol 16: 391-394.
(2000)
Ultrasound Obstet Gynecol
, vol.16
, pp. 391-394
Benacerraf, B.R.1
Spiro, R.2
Mitchell, A.G.3
3
0027476349
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
Cohen MM. 1993. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45: 300-307.
(1993)
Am J Med Genet
, vol.45
, pp. 300-307
Cohen, M.M.1
4
0032992570
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
Cornejo-Roldan LR, Roessler E, Meunke M. 1999. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 104: 425-431.
(1999)
Hum Genet
, vol.104
, pp. 425-431
Cornejo-Roldan, L.R.1
Roessler, E.2
Meunke, M.3
6
0031024743
Mutation detection in FGFR2 craniosynostosis syndromes
Hollway GE, Suthers GK, Haan EA, et al. 1997. Mutation detection in FGFR2 craniosynostosis syndromes. Hum Genet 99: 251-255.
(1997)
Hum Genet
, vol.99
, pp. 251-255
Hollway, G.E.1
Suthers, G.K.2
Haan, E.A.3
7
0029132035
Fibroblast growth factor receptor mutations in human skeletal disorders
Muenke M, Schell U. 1995. Fibroblast growth factor receptor mutations in human skeletal disorders. Trends Genet 11: 308-313.
(1995)
Trends Genet
, vol.11
, pp. 308-313
Muenke, M.1
Schell, U.2
8
0028046606
A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome
Muenke M, Schell U, Hehr A, et al. 1995. A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome. Nat Genet 8: 269-274.
(1995)
Nat Genet
, vol.8
, pp. 269-274
Muenke, M.1
Schell, U.2
Hehr, A.3
9
0028845750
The ultrasonic detection of an isolated craniosynostosis
Van Der Ham LI, Cohen-Overbeek TE, Paz Y, Geuze HD, Vermij-Keers Chr. 1995. The ultrasonic detection of an isolated craniosynostosis. Prenat Diagn 15: 1189-1192.
(1995)
Prenat Diagn
, vol.15
, pp. 1189-1192
Van Der Ham, L.I.1
Cohen-Overbeek, T.E.2
Paz, Y.3
Geuze, H.D.4
Vermij-Keers, Chr.5
10
0037108225
FGFs, their receptors, and human limb malformations: Clinical and molecular correlations
Wilkie AOM, Patey SJ, Kan S, van den Ouweland AMW, Hamel BCJ. 2002. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet 112: 266-278.
(2002)
Am J Med Genet
, vol.112
, pp. 266-278
Wilkie, A.O.M.1
Patey, S.J.2
Kan, S.3
Van Den Ouweland, A.M.W.4
Hamel, B.C.J.5