-
1
-
-
0018379162
-
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine
-
Oberklaid F., Danks D., Jensen F., Stace L., and Rosshandler S. Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet 16 (1979) 140-146
-
(1979)
J Med Genet
, vol.16
, pp. 140-146
-
-
Oberklaid, F.1
Danks, D.2
Jensen, F.3
Stace, L.4
Rosshandler, S.5
-
2
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R., Thompson L., Zhu Y., et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78 (1994) 335-342
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.2
Zhu, Y.3
-
3
-
-
32444431537
-
Dwarfs in ancient Egypt
-
Kozma C. Dwarfs in ancient Egypt. Am J Med Genet A 140 (2006) 303-311
-
(2006)
Am J Med Genet A
, vol.140
, pp. 303-311
-
-
Kozma, C.1
-
4
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations of FGFR3
-
Bellus G., Hefferon T., Ortiz de Luna R., et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 56 (1995) 368-373
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368-373
-
-
Bellus, G.1
Hefferon, T.2
Ortiz de Luna, R.3
-
5
-
-
0016422312
-
The chondrodystrophies
-
Rimoin D. The chondrodystrophies. Adv Hum Genet 5 (1975) 1-118
-
(1975)
Adv Hum Genet
, vol.5
, pp. 1-118
-
-
Rimoin, D.1
-
6
-
-
33845971924
-
Nosology and classification of genetic skeletal disorders: 2006 revision
-
Superti-Furga A., and Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 143 (2007) 1-18
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1-18
-
-
Superti-Furga, A.1
Unger, S.2
-
7
-
-
34248536003
-
Achondroplasia
-
Cassidy S., and Allanson J. (Eds), John Wiley & Sons, Hoboken, NJ, USA
-
Pauli R. Achondroplasia. In: Cassidy S., and Allanson J. (Eds). Management of genetic syndromes (2005), John Wiley & Sons, Hoboken, NJ, USA 13-29
-
(2005)
Management of genetic syndromes
, pp. 13-29
-
-
Pauli, R.1
-
8
-
-
33644620626
-
Health supervision for children with achondroplasia
-
Trotter T., and Hall J. Health supervision for children with achondroplasia. Pediatrics 116 (2005) 771-783
-
(2005)
Pediatrics
, vol.116
, pp. 771-783
-
-
Trotter, T.1
Hall, J.2
-
9
-
-
0024256944
-
The natural history of achondroplasia
-
Nicoletti B., Kopits S., Ascani E., and McKusick V. (Eds), Plenum Press, New York
-
Hall J. The natural history of achondroplasia. In: Nicoletti B., Kopits S., Ascani E., and McKusick V. (Eds). Human achondroplasia-a multidisciplinary approach (1988), Plenum Press, New York 3-10
-
(1988)
Human achondroplasia-a multidisciplinary approach
, pp. 3-10
-
-
Hall, J.1
-
10
-
-
0028093135
-
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
-
Rousseau F., Bonaventure J., Legeai-Mallet L., et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371 (1994) 252-254
-
(1994)
Nature
, vol.371
, pp. 252-254
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
-
11
-
-
30144437805
-
Recent milestones in achondroplasia research
-
Horton W. Recent milestones in achondroplasia research. Am J Med Genet A 140 (2006) 166-169
-
(2006)
Am J Med Genet A
, vol.140
, pp. 166-169
-
-
Horton, W.1
-
12
-
-
0025981954
-
Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes
-
Martinez-Frias M., Cereijo A., Bermejo E., Lopez M., Sanchez M., and Gonzalo C. Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes. Am J Med Genet 38 (1991) 622-625
-
(1991)
Am J Med Genet
, vol.38
, pp. 622-625
-
-
Martinez-Frias, M.1
Cereijo, A.2
Bermejo, E.3
Lopez, M.4
Sanchez, M.5
Gonzalo, C.6
-
13
-
-
0022493547
-
The birth prevalence rates for the skeletal dysplasias
-
Orioli I., Castilla E., and Barbosa-Neto J. The birth prevalence rates for the skeletal dysplasias. J Med Genet 23 (1986) 328-332
-
(1986)
J Med Genet
, vol.23
, pp. 328-332
-
-
Orioli, I.1
Castilla, E.2
Barbosa-Neto, J.3
-
14
-
-
0024616653
-
Birth prevalence rates of skeletal dysplasias
-
Stoll C., Dott B., Roth M., and Alembik Y. Birth prevalence rates of skeletal dysplasias. Clin Genet 35 (1989) 88-92
-
(1989)
Clin Genet
, vol.35
, pp. 88-92
-
-
Stoll, C.1
Dott, B.2
Roth, M.3
Alembik, Y.4
-
15
-
-
0033361757
-
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
-
Tavormina P., Bellus G., Webster M., et al. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet 64 (1999) 722-731
-
(1999)
Am J Hum Genet
, vol.64
, pp. 722-731
-
-
Tavormina, P.1
Bellus, G.2
Webster, M.3
-
16
-
-
1842848098
-
Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism
-
Horton W., and Lunstrum G. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord 3 (2002) 381-385
-
(2002)
Rev Endocr Metab Disord
, vol.3
, pp. 381-385
-
-
Horton, W.1
Lunstrum, G.2
-
18
-
-
0014317107
-
Achondroplasia: clinical radiologic features with comment on genetic implications
-
Langer Jr. L., Baumann P., and Gorlin R. Achondroplasia: clinical radiologic features with comment on genetic implications. Clin Pediatr (Phila) 7 (1968) 474-485
-
(1968)
Clin Pediatr (Phila)
, vol.7
, pp. 474-485
-
-
Langer Jr., L.1
Baumann, P.2
Gorlin, R.3
-
19
-
-
0014709966
-
Achondroplasia-a genetic and statistical survey
-
Murdoch J., Walker B., Hall J., Abbey H., Smith K., and McKusick V. Achondroplasia-a genetic and statistical survey. Ann Hum Genet 33 (1970) 227-244
-
(1970)
Ann Hum Genet
, vol.33
, pp. 227-244
-
-
Murdoch, J.1
Walker, B.2
Hall, J.3
Abbey, H.4
Smith, K.5
McKusick, V.6
-
20
-
-
34447285960
-
Molecular pathogenesis of achondroplasia
-
Horton W. Molecular pathogenesis of achondroplasia. Growth, Genetics and Hormones 22 (2006) 49-54
-
(2006)
Growth, Genetics and Hormones
, vol.22
, pp. 49-54
-
-
Horton, W.1
-
21
-
-
0028872752
-
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
-
Tavormina P., Shiang R., Thompson L., et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9 (1995) 321-328
-
(1995)
Nat Genet
, vol.9
, pp. 321-328
-
-
Tavormina, P.1
Shiang, R.2
Thompson, L.3
-
22
-
-
0029032394
-
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
-
Bellus G., McIntosh I., Smith E., et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 10 (1995) 357-359
-
(1995)
Nat Genet
, vol.10
, pp. 357-359
-
-
Bellus, G.1
McIntosh, I.2
Smith, E.3
-
23
-
-
0029298121
-
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
-
Rousseau F., Saugier P., Le Merrer M., et al. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet 10 (1995) 11-12
-
(1995)
Nat Genet
, vol.10
, pp. 11-12
-
-
Rousseau, F.1
Saugier, P.2
Le Merrer, M.3
-
24
-
-
0029937714
-
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
-
Rousseau F., el Ghouzzi V., Delezoide A., et al. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet 5 (1996) 509-512
-
(1996)
Hum Mol Genet
, vol.5
, pp. 509-512
-
-
Rousseau, F.1
el Ghouzzi, V.2
Delezoide, A.3
-
25
-
-
0030773251
-
Fibroblast growth factor receptor 3 and the human chondrodysplasias
-
Horton W. Fibroblast growth factor receptor 3 and the human chondrodysplasias. Curr Opin Pediatr 9 (1997) 437-442
-
(1997)
Curr Opin Pediatr
, vol.9
, pp. 437-442
-
-
Horton, W.1
-
26
-
-
0028928630
-
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
-
Superti-Furga A., Eich G., Bucher H., et al. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Eur J Pediatr 154 (1995) 215-219
-
(1995)
Eur J Pediatr
, vol.154
, pp. 215-219
-
-
Superti-Furga, A.1
Eich, G.2
Bucher, H.3
-
27
-
-
0032231407
-
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
-
Wilkin D., Szabo J., Cameron R., et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 63 (1998) 711-716
-
(1998)
Am J Hum Genet
, vol.63
, pp. 711-716
-
-
Wilkin, D.1
Szabo, J.2
Cameron, R.3
-
28
-
-
0031746556
-
Localization of fibroblast growth factor 2 (FGF-2) protein and the receptors FGFR 1-4 in normal human seminiferous epithelium
-
Steger K., Tetens F., Seitz J., Grothe C., and Bergmann M. Localization of fibroblast growth factor 2 (FGF-2) protein and the receptors FGFR 1-4 in normal human seminiferous epithelium. Histochem Cell Biol 110 (1998) 57-62
-
(1998)
Histochem Cell Biol
, vol.110
, pp. 57-62
-
-
Steger, K.1
Tetens, F.2
Seitz, J.3
Grothe, C.4
Bergmann, M.5
-
29
-
-
0037069429
-
The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect
-
Tiemann-Boege I., Navidi W., Grewal R., et al. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci USA 99 (2002) 14952-14957
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 14952-14957
-
-
Tiemann-Boege, I.1
Navidi, W.2
Grewal, R.3
-
30
-
-
0042490798
-
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
-
Goriely A., McVean G., Rojmyr M., Ingemarsson B., and Wilkie A. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301 (2003) 643-646
-
(2003)
Science
, vol.301
, pp. 643-646
-
-
Goriely, A.1
McVean, G.2
Rojmyr, M.3
Ingemarsson, B.4
Wilkie, A.5
-
31
-
-
17844393110
-
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
-
Goriely A., McVean G., van Pelt A., et al. Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 102 (2005) 6051-6056
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 6051-6056
-
-
Goriely, A.1
McVean, G.2
van Pelt, A.3
-
32
-
-
0037097976
-
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
-
Ornitz D., and Marie P. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 16 (2002) 1446-1465
-
(2002)
Genes Dev
, vol.16
, pp. 1446-1465
-
-
Ornitz, D.1
Marie, P.2
-
33
-
-
0032737329
-
Craniosynostosis syndromes: from genes to premature fusion of skull bones
-
Hehr U., and Muenke M. Craniosynostosis syndromes: from genes to premature fusion of skull bones. Mol Genet Metab 68 (1999) 139-151
-
(1999)
Mol Genet Metab
, vol.68
, pp. 139-151
-
-
Hehr, U.1
Muenke, M.2
-
34
-
-
16944367030
-
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
-
Muenke M., Gripp K., McDonald-McGinn D., et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60 (1997) 555-564
-
(1997)
Am J Hum Genet
, vol.60
, pp. 555-564
-
-
Muenke, M.1
Gripp, K.2
McDonald-McGinn, D.3
-
35
-
-
0029935895
-
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
-
Naski M., Wang Q., Xu J., and Ornitz D. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 13 (1996) 233-237
-
(1996)
Nat Genet
, vol.13
, pp. 233-237
-
-
Naski, M.1
Wang, Q.2
Xu, J.3
Ornitz, D.4
-
36
-
-
0029928791
-
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
-
Colvin J., Bohne B., Harding G., McEwen D., and Ornitz D. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 12 (1996) 390-397
-
(1996)
Nat Genet
, vol.12
, pp. 390-397
-
-
Colvin, J.1
Bohne, B.2
Harding, G.3
McEwen, D.4
Ornitz, D.5
-
37
-
-
0029917507
-
Fibroblast growth factor receptor 3 is a negative regulator of bone growth
-
Deng C., Wynshaw-Boris A., Zhou F., Kuo A., and Leder P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84 (1996) 911-921
-
(1996)
Cell
, vol.84
, pp. 911-921
-
-
Deng, C.1
Wynshaw-Boris, A.2
Zhou, F.3
Kuo, A.4
Leder, P.5
-
38
-
-
0030064347
-
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
-
Webster M., and Donoghue D. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J 15 (1996) 520-527
-
(1996)
EMBO J
, vol.15
, pp. 520-527
-
-
Webster, M.1
Donoghue, D.2
-
39
-
-
0032413011
-
Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3
-
Naski M., Colvin J., Coffin J., and Ornitz D. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development 125 (1998) 4977-4988
-
(1998)
Development
, vol.125
, pp. 4977-4988
-
-
Naski, M.1
Colvin, J.2
Coffin, J.3
Ornitz, D.4
-
40
-
-
0033456159
-
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis
-
Chen L., Adar R., Yang X., et al. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. J Clin Invest 104 (1999) 1517-1525
-
(1999)
J Clin Invest
, vol.104
, pp. 1517-1525
-
-
Chen, L.1
Adar, R.2
Yang, X.3
-
41
-
-
0032759872
-
Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice
-
Garofalo S., Kliger-Spatz M., Cooke J., et al. Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice. J Bone Miner Res 14 (1999) 1909-1915
-
(1999)
J Bone Miner Res
, vol.14
, pp. 1909-1915
-
-
Garofalo, S.1
Kliger-Spatz, M.2
Cooke, J.3
-
42
-
-
13044278311
-
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3
-
Wang Y., Spatz M., Kannan K., et al. A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Proc Natl Acad Sci USA 96 (1999) 4455-4460
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 4455-4460
-
-
Wang, Y.1
Spatz, M.2
Kannan, K.3
-
43
-
-
0035328856
-
Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers
-
Jang J., Shin K., and Park J. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Cancer Res 61 (2001) 3541-3543
-
(2001)
Cancer Res
, vol.61
, pp. 3541-3543
-
-
Jang, J.1
Shin, K.2
Park, J.3
-
44
-
-
0035866380
-
The fibroblast growth factor receptor 3 (FGFR3) mutation is a strong indicator of superficial bladder cancer with low recurrence rate
-
van Rhijn B., Lurkin I., Radvanyi F., Kirkels W., van der Kwast T., and Zwarthoff E. The fibroblast growth factor receptor 3 (FGFR3) mutation is a strong indicator of superficial bladder cancer with low recurrence rate. Cancer Res 61 (2001) 1265-1268
-
(2001)
Cancer Res
, vol.61
, pp. 1265-1268
-
-
van Rhijn, B.1
Lurkin, I.2
Radvanyi, F.3
Kirkels, W.4
van der Kwast, T.5
Zwarthoff, E.6
-
45
-
-
0035254612
-
Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma
-
Chesi M., Brents L., Ely S., et al. Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma. Blood 97 (2001) 729-736
-
(2001)
Blood
, vol.97
, pp. 729-736
-
-
Chesi, M.1
Brents, L.2
Ely, S.3
-
46
-
-
33750039697
-
High frequency of FGFR3 mutations in adenoid seborrheic keratoses
-
Hafner C., van Oers J., Hartmann A., et al. High frequency of FGFR3 mutations in adenoid seborrheic keratoses. J Invest Dermatol 126 (2006) 2404-2407
-
(2006)
J Invest Dermatol
, vol.126
, pp. 2404-2407
-
-
Hafner, C.1
van Oers, J.2
Hartmann, A.3
-
47
-
-
0034644539
-
Cell signaling by receptor tyrosine kinases
-
Schlessinger J. Cell signaling by receptor tyrosine kinases. Cell 103 (2000) 211-225
-
(2000)
Cell
, vol.103
, pp. 211-225
-
-
Schlessinger, J.1
-
48
-
-
15844368097
-
Receptor specificity of the fibroblast growth factor family
-
Ornitz D., Xu J., Colvin J., et al. Receptor specificity of the fibroblast growth factor family. J Biol Chem 271 (1996) 15292-15297
-
(1996)
J Biol Chem
, vol.271
, pp. 15292-15297
-
-
Ornitz, D.1
Xu, J.2
Colvin, J.3
-
49
-
-
18144391965
-
FGF signaling in the developing endochondral skeleton
-
Ornitz D. FGF signaling in the developing endochondral skeleton. Cytokine Growth Factor Rev 16 (2005) 205-213
-
(2005)
Cytokine Growth Factor Rev
, vol.16
, pp. 205-213
-
-
Ornitz, D.1
-
50
-
-
0036203355
-
Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18
-
Liu Z., Xu J., Colvin J., and Ornitz D. Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18. Genes Dev 16 (2002) 859-869
-
(2002)
Genes Dev
, vol.16
, pp. 859-869
-
-
Liu, Z.1
Xu, J.2
Colvin, J.3
Ornitz, D.4
-
51
-
-
0036205735
-
FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis
-
Ohbayashi N., Shibayama M., Kurotaki Y., et al. FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis. Genes Dev 16 (2002) 870-879
-
(2002)
Genes Dev
, vol.16
, pp. 870-879
-
-
Ohbayashi, N.1
Shibayama, M.2
Kurotaki, Y.3
-
52
-
-
25844440918
-
A protein canyon in the FGF-FGF receptor dimer selects from an a la carte menu of heparan sulfate motifs
-
Mohammadi M., Olsen S., and Goetz R. A protein canyon in the FGF-FGF receptor dimer selects from an a la carte menu of heparan sulfate motifs. Curr Opin Struct Biol 15 (2005) 506-516
-
(2005)
Curr Opin Struct Biol
, vol.15
, pp. 506-516
-
-
Mohammadi, M.1
Olsen, S.2
Goetz, R.3
-
54
-
-
0035815704
-
A novel alternatively spliced fibroblast growth factor receptor 3 isoform lacking the acid box domain is expressed during chondrogenic differentiation of ATDC5 cells
-
Shimizu A., Tada K., Shukunami C., et al. A novel alternatively spliced fibroblast growth factor receptor 3 isoform lacking the acid box domain is expressed during chondrogenic differentiation of ATDC5 cells. J Biol Chem 276 (2001) 11031-11040
-
(2001)
J Biol Chem
, vol.276
, pp. 11031-11040
-
-
Shimizu, A.1
Tada, K.2
Shukunami, C.3
-
55
-
-
0030598848
-
Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism
-
Mohammadi M., Schlessinger J., and Hubbard S. Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism. Cell 86 (1996) 577-587
-
(1996)
Cell
, vol.86
, pp. 577-587
-
-
Mohammadi, M.1
Schlessinger, J.2
Hubbard, S.3
-
56
-
-
0035168141
-
Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation
-
Hart K., Robertson S., and Donoghue D. Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation. Mol Biol Cell 12 (2001) 931-942
-
(2001)
Mol Biol Cell
, vol.12
, pp. 931-942
-
-
Hart, K.1
Robertson, S.2
Donoghue, D.3
-
57
-
-
0035902581
-
Critical role for the docking-protein FRS2 alpha in FGF receptor-mediated signal transduction pathways
-
Hadari Y., Gotoh N., Kouhara H., Lax I., and Schlessinger J. Critical role for the docking-protein FRS2 alpha in FGF receptor-mediated signal transduction pathways. Proc Natl Acad Sci USA 98 (2001) 8578-8583
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 8578-8583
-
-
Hadari, Y.1
Gotoh, N.2
Kouhara, H.3
Lax, I.4
Schlessinger, J.5
-
58
-
-
1842372689
-
Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein
-
Kanai M., Goke M., Tsunekawa S., and Podolsky D. Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein. J Biol Chem 272 (1997) 6621-6628
-
(1997)
J Biol Chem
, vol.272
, pp. 6621-6628
-
-
Kanai, M.1
Goke, M.2
Tsunekawa, S.3
Podolsky, D.4
-
59
-
-
0030896404
-
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
-
Su W., Kitagawa M., Xue N., et al. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature 386 (1997) 288-292
-
(1997)
Nature
, vol.386
, pp. 288-292
-
-
Su, W.1
Kitagawa, M.2
Xue, N.3
-
60
-
-
0032557555
-
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
-
Legeai-Mallet L., Benoist-Lasselin C., Delezoide A., Munnich A., and Bonaventure J. Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia. J Biol Chem 273 (1998) 13007-13014
-
(1998)
J Biol Chem
, vol.273
, pp. 13007-13014
-
-
Legeai-Mallet, L.1
Benoist-Lasselin, C.2
Delezoide, A.3
Munnich, A.4
Bonaventure, J.5
-
61
-
-
0033151612
-
FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway
-
Sahni M., Ambrosetti D., Mansukhani A., Gertner R., Levy D., and Basilico C. FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway. Genes Dev 13 (1999) 1361-1366
-
(1999)
Genes Dev
, vol.13
, pp. 1361-1366
-
-
Sahni, M.1
Ambrosetti, D.2
Mansukhani, A.3
Gertner, R.4
Levy, D.5
Basilico, C.6
-
62
-
-
0034612592
-
Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4
-
Hart K., Robertson S., Kanemitsu M., Meyer A., Tynan J., and Donoghue D. Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4. Oncogene 19 (2000) 3309-3320
-
(2000)
Oncogene
, vol.19
, pp. 3309-3320
-
-
Hart, K.1
Robertson, S.2
Kanemitsu, M.3
Meyer, A.4
Tynan, J.5
Donoghue, D.6
-
63
-
-
0035895993
-
Fibroblast growth factor receptor 3 induces gene expression primarily through Ras-independent signal transduction pathways
-
Choi D., Toledo-Aral J., Lin H., et al. Fibroblast growth factor receptor 3 induces gene expression primarily through Ras-independent signal transduction pathways. J Biol Chem 276 (2001) 5116-5122
-
(2001)
J Biol Chem
, vol.276
, pp. 5116-5122
-
-
Choi, D.1
Toledo-Aral, J.2
Lin, H.3
-
64
-
-
1042289662
-
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype
-
Murakami S., Balmes G., McKinney S., Zhang Z., Givol D., and de Crombrugghe B. Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. Genes Dev 18 (2004) 290-305
-
(2004)
Genes Dev
, vol.18
, pp. 290-305
-
-
Murakami, S.1
Balmes, G.2
McKinney, S.3
Zhang, Z.4
Givol, D.5
de Crombrugghe, B.6
-
65
-
-
31044432518
-
Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation
-
Zhang R., Murakami S., Coustry F., Wang Y., and de Crombrugghe B. Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation. Proc Natl Acad Sci USA 103 (2006) 365-370
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 365-370
-
-
Zhang, R.1
Murakami, S.2
Coustry, F.3
Wang, Y.4
de Crombrugghe, B.5
-
66
-
-
0036744820
-
Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation
-
Minina E., Kreschel C., Naski M., Ornitz D., and Vortkamp A. Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. Dev Cell 3 (2002) 439-449
-
(2002)
Dev Cell
, vol.3
, pp. 439-449
-
-
Minina, E.1
Kreschel, C.2
Naski, M.3
Ornitz, D.4
Vortkamp, A.5
-
67
-
-
0038491622
-
A network of transcriptional and signaling events is activated by FGF to induce chondrocyte growth arrest and differentiation
-
Dailey L., Laplantine E., Priore R., and Basilico C. A network of transcriptional and signaling events is activated by FGF to induce chondrocyte growth arrest and differentiation. J Cell Biol 161 (2003) 1053-1066
-
(2003)
J Cell Biol
, vol.161
, pp. 1053-1066
-
-
Dailey, L.1
Laplantine, E.2
Priore, R.3
Basilico, C.4
-
68
-
-
19444368174
-
C-type natriuretic peptide and guanylyl cyclase B receptor
-
Schulz S. C-type natriuretic peptide and guanylyl cyclase B receptor. Peptides 26 (2005) 1024-1034
-
(2005)
Peptides
, vol.26
, pp. 1024-1034
-
-
Schulz, S.1
-
69
-
-
3042692632
-
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
-
Bartels C., Bukulmez H., Padayatti P., et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet 75 (2004) 27-34
-
(2004)
Am J Hum Genet
, vol.75
, pp. 27-34
-
-
Bartels, C.1
Bukulmez, H.2
Padayatti, P.3
-
70
-
-
0036720692
-
Cyclic GMP-dependent protein kinase II plays a critical role in C-type natriuretic peptide-mediated endochondral ossification
-
Miyazawa T., Ogawa Y., Chusho H., et al. Cyclic GMP-dependent protein kinase II plays a critical role in C-type natriuretic peptide-mediated endochondral ossification. Endocrinology 143 (2002) 3604-3610
-
(2002)
Endocrinology
, vol.143
, pp. 3604-3610
-
-
Miyazawa, T.1
Ogawa, Y.2
Chusho, H.3
-
71
-
-
27944483696
-
Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis
-
Krejci P., Masri B., Fontaine V., et al. Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis. J Cell Sci 118 (2005) 5089-5100
-
(2005)
J Cell Sci
, vol.118
, pp. 5089-5100
-
-
Krejci, P.1
Masri, B.2
Fontaine, V.3
-
72
-
-
33646347414
-
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain
-
You M., Li E., and Hristova K. The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. Biochemistry 45 (2006) 5551-5556
-
(2006)
Biochemistry
, vol.45
, pp. 5551-5556
-
-
You, M.1
Li, E.2
Hristova, K.3
-
73
-
-
0036239904
-
Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization
-
Adar R., Monsonego-Ornan E., David P., and Yayon A. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. J Bone Miner Res 17 (2002) 860-868
-
(2002)
J Bone Miner Res
, vol.17
, pp. 860-868
-
-
Adar, R.1
Monsonego-Ornan, E.2
David, P.3
Yayon, A.4
-
74
-
-
0033659625
-
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
-
Bellus G., Spector E., Speiser P., et al. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet 67 (2000) 1411-1421
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1411-1421
-
-
Bellus, G.1
Spector, E.2
Speiser, P.3
-
75
-
-
33644956734
-
K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways
-
Lievens P., Roncador A., and Liboi E. K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways. J Mol Biol 357 (2006) 783-792
-
(2006)
J Mol Biol
, vol.357
, pp. 783-792
-
-
Lievens, P.1
Roncador, A.2
Liboi, E.3
-
76
-
-
0033981302
-
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation
-
Monsonego-Ornan E., Adar R., Feferman T., Segev O., and Yayon A. The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. Mol Cell Biol 20 (2000) 516-522
-
(2000)
Mol Cell Biol
, vol.20
, pp. 516-522
-
-
Monsonego-Ornan, E.1
Adar, R.2
Feferman, T.3
Segev, O.4
Yayon, A.5
-
77
-
-
0345743700
-
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia
-
Cho J., Guo C., Torello M., et al. Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. Proc Natl Acad Sci USA 101 (2004) 609-614
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 609-614
-
-
Cho, J.1
Guo, C.2
Torello, M.3
-
78
-
-
32244446690
-
Suppressors of cytokine signaling (SOCS) 1 and SOCS3 interact with and modulate fibroblast growth factor receptor signaling
-
Ben-Zvi T., Yayon A., Gertler A., and Monsonego-Ornan E. Suppressors of cytokine signaling (SOCS) 1 and SOCS3 interact with and modulate fibroblast growth factor receptor signaling. J Cell Sci 119 (2006) 380-387
-
(2006)
J Cell Sci
, vol.119
, pp. 380-387
-
-
Ben-Zvi, T.1
Yayon, A.2
Gertler, A.3
Monsonego-Ornan, E.4
-
79
-
-
0030834170
-
Differential expression of the fibroblast growth factor receptor (FGFR) multigene family in normal human adult tissues
-
Hughes S. Differential expression of the fibroblast growth factor receptor (FGFR) multigene family in normal human adult tissues. J Histochem Cytochem 45 (1997) 1005-1019
-
(1997)
J Histochem Cytochem
, vol.45
, pp. 1005-1019
-
-
Hughes, S.1
-
80
-
-
0028268348
-
Differential expression patterns of mRNAs for members of the fibroblast growth factor receptor family, FGFR-1-FGFR-4, in rat brain
-
Yazaki N., Hosoi Y., Kawabata K., et al. Differential expression patterns of mRNAs for members of the fibroblast growth factor receptor family, FGFR-1-FGFR-4, in rat brain. J Neurosci Res 37 (1994) 445-452
-
(1994)
J Neurosci Res
, vol.37
, pp. 445-452
-
-
Yazaki, N.1
Hosoi, Y.2
Kawabata, K.3
-
81
-
-
0031042233
-
Comparative localization of fibroblast growth factor receptor-1, -2, and -3 mRNAs in the rat brain: in situ hybridization analysis
-
Belluardo N., Wu G., Mudo G., Hansson A., Pettersson R., and Fuxe K. Comparative localization of fibroblast growth factor receptor-1, -2, and -3 mRNAs in the rat brain: in situ hybridization analysis. J Comp Neurol 379 (1997) 226-246
-
(1997)
J Comp Neurol
, vol.379
, pp. 226-246
-
-
Belluardo, N.1
Wu, G.2
Mudo, G.3
Hansson, A.4
Pettersson, R.5
Fuxe, K.6
-
82
-
-
0035111259
-
Molecular cloning and developmental expression of rat fibroblast growth factor receptor 3
-
Claus P., and Grothe C. Molecular cloning and developmental expression of rat fibroblast growth factor receptor 3. Histochem Cell Biol 115 (2001) 147-155
-
(2001)
Histochem Cell Biol
, vol.115
, pp. 147-155
-
-
Claus, P.1
Grothe, C.2
-
83
-
-
2142640911
-
Fibroblast growth factor receptor-3 is expressed in undifferentiated intestinal epithelial cells during murine crypt morphogenesis
-
Vidrich A., Buzan J., Ilo C., Bradley L., Skaar K., and Cohn S. Fibroblast growth factor receptor-3 is expressed in undifferentiated intestinal epithelial cells during murine crypt morphogenesis. Dev Dyn 230 (2004) 114-123
-
(2004)
Dev Dyn
, vol.230
, pp. 114-123
-
-
Vidrich, A.1
Buzan, J.2
Ilo, C.3
Bradley, L.4
Skaar, K.5
Cohn, S.6
-
84
-
-
0031047041
-
Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective
-
Lachman R. Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet 69 (1997) 33-43
-
(1997)
Am J Med Genet
, vol.69
, pp. 33-43
-
-
Lachman, R.1
-
85
-
-
15844402468
-
-
Plenum Press, New York
-
Nicoletti B., Kopits S., Ascani E., and McKusick V. Human achondroplasia-a multidisciplinary approach (1988), Plenum Press, New York
-
(1988)
Human achondroplasia-a multidisciplinary approach
-
-
Nicoletti, B.1
Kopits, S.2
Ascani, E.3
McKusick, V.4
-
86
-
-
0022654694
-
In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements
-
Kurtz A., Filly R., Wapner R., et al. In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements. J Ultrasound Med 5 (1986) 137-140
-
(1986)
J Ultrasound Med
, vol.5
, pp. 137-140
-
-
Kurtz, A.1
Filly, R.2
Wapner, R.3
-
87
-
-
0027289545
-
Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation
-
Cordone M., Lituania M., Bocchino G., Passamonti U., Toma P., and Camera G. Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. Prenat Diagn 13 (1993) 395-401
-
(1993)
Prenat Diagn
, vol.13
, pp. 395-401
-
-
Cordone, M.1
Lituania, M.2
Bocchino, G.3
Passamonti, U.4
Toma, P.5
Camera, G.6
-
88
-
-
0029125688
-
Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester
-
Patel M., and Filly R. Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. Radiology 196 (1995) 541-545
-
(1995)
Radiology
, vol.196
, pp. 541-545
-
-
Patel, M.1
Filly, R.2
-
89
-
-
0029801595
-
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia
-
Mesoraca A., Pilu G., Perolo A., et al. Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. Prenat Diagn 16 (1996) 764-768
-
(1996)
Prenat Diagn
, vol.16
, pp. 764-768
-
-
Mesoraca, A.1
Pilu, G.2
Perolo, A.3
-
90
-
-
33748362297
-
-
(accessed March 26, 2007).
-
Francomano C. GeneReviews: achondroplasia. http://genetests.org/servlet/access?db=geneclinics&site=gt&id=88 88891&key=apg9GZxAMVb9m&gry=&fcn=y&fw=hMJO&filename= /profiles/achondroplasia/index.html (accessed March 26, 2007).
-
GeneReviews: achondroplasia
-
-
Francomano, C.1
-
91
-
-
0020189355
-
Head growth in achondroplasia: use of ultrasound studies
-
Hall J., Horton W., Kelly T., and Scott C. Head growth in achondroplasia: use of ultrasound studies. Am J Med Genet 13 (1982) 105
-
(1982)
Am J Med Genet
, vol.13
, pp. 105
-
-
Hall, J.1
Horton, W.2
Kelly, T.3
Scott, C.4
-
92
-
-
0021775763
-
A morphometric analysis of the craniofacial configuration in achondroplasia
-
Cohen Jr. M., Walker G., and Phillips C. A morphometric analysis of the craniofacial configuration in achondroplasia. J Craniofac Genet Dev Biol Suppl 1 (1985) 139-165
-
(1985)
J Craniofac Genet Dev Biol Suppl
, vol.1
, pp. 139-165
-
-
Cohen Jr., M.1
Walker, G.2
Phillips, C.3
-
93
-
-
0025718923
-
Middle ear disease in childhood achondroplasia
-
Berkowitz R., Grundfast K., Scott C., Saal H., Stern H., and Rosenbaum K. Middle ear disease in childhood achondroplasia. Ear Nose Throat J 70 (1991) 305-308
-
(1991)
Ear Nose Throat J
, vol.70
, pp. 305-308
-
-
Berkowitz, R.1
Grundfast, K.2
Scott, C.3
Saal, H.4
Stern, H.5
Rosenbaum, K.6
-
95
-
-
0018099641
-
Curves of the achondroplastic spine: a new hypothesis
-
Siebens A., Hungerford D., and Kirby N. Curves of the achondroplastic spine: a new hypothesis. Johns Hopkins Med J 142 (1978) 205-210
-
(1978)
Johns Hopkins Med J
, vol.142
, pp. 205-210
-
-
Siebens, A.1
Hungerford, D.2
Kirby, N.3
-
96
-
-
0024262223
-
Thoracolumbular kyphosis and lumbosacral hyperlordosis in achondroplastic children
-
Kopits S. Thoracolumbular kyphosis and lumbosacral hyperlordosis in achondroplastic children. Basic Life Science 48 (1988) 241-255
-
(1988)
Basic Life Science
, vol.48
, pp. 241-255
-
-
Kopits, S.1
-
97
-
-
0023797232
-
Kyphosis in achondroplasia: probably preventable
-
Hall J. Kyphosis in achondroplasia: probably preventable. J Pediatr 112 (1988) 166-167
-
(1988)
J Pediatr
, vol.112
, pp. 166-167
-
-
Hall, J.1
-
98
-
-
0031414798
-
Prevention of fixed, angular kyphosis in achondroplasia
-
Pauli R., Breed A., Horton V., Glinski L., and Reiser C. Prevention of fixed, angular kyphosis in achondroplasia. J Pediatr Orthop 17 (1997) 726-733
-
(1997)
J Pediatr Orthop
, vol.17
, pp. 726-733
-
-
Pauli, R.1
Breed, A.2
Horton, V.3
Glinski, L.4
Reiser, C.5
-
99
-
-
0023156987
-
Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation
-
Reid C., Pyeritz R., Kopits S., et al. Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr 110 (1987) 522-530
-
(1987)
J Pediatr
, vol.110
, pp. 522-530
-
-
Reid, C.1
Pyeritz, R.2
Kopits, S.3
-
100
-
-
0028957869
-
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia
-
Pauli R., Horton V., Glinski L., and Reiser C. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 56 (1995) 732-744
-
(1995)
Am J Hum Genet
, vol.56
, pp. 732-744
-
-
Pauli, R.1
Horton, V.2
Glinski, L.3
Reiser, C.4
-
102
-
-
0344614666
-
Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment
-
Keiper Jr. G., Koch B., and Crone K. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg 31 (1999) 78-83
-
(1999)
Pediatr Neurosurg
, vol.31
, pp. 78-83
-
-
Keiper Jr., G.1
Koch, B.2
Crone, K.3
-
103
-
-
0028124956
-
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia
-
Bellus G., Escallon C., Ortiz de Luna R., et al. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. Lancet 344 (1994) 1511-1512
-
(1994)
Lancet
, vol.344
, pp. 1511-1512
-
-
Bellus, G.1
Escallon, C.2
Ortiz de Luna, R.3
-
104
-
-
0036796087
-
Issues surrounding prenatal genetic testing for achondroplasia
-
Gooding H., Boehm K., Thompson R., Hadley D., Francomano C., and Biesecker B. Issues surrounding prenatal genetic testing for achondroplasia. Prenat Diagn 22 (2002) 933-940
-
(2002)
Prenat Diagn
, vol.22
, pp. 933-940
-
-
Gooding, H.1
Boehm, K.2
Thompson, R.3
Hadley, D.4
Francomano, C.5
Biesecker, B.6
-
105
-
-
0021127358
-
Long-term neurological sequelae in achondroplasia
-
Hecht J., Butler I., and Scott Jr. C. Long-term neurological sequelae in achondroplasia. Eur J Pediatr 143 (1984) 58-60
-
(1984)
Eur J Pediatr
, vol.143
, pp. 58-60
-
-
Hecht, J.1
Butler, I.2
Scott Jr., C.3
-
106
-
-
0031819322
-
Medical complications of achondroplasia: a multicentre patient review
-
Hunter A., Bankier A., Rogers J., Sillence D., and Scott Jr. C. Medical complications of achondroplasia: a multicentre patient review. J Med Genet 35 (1998) 705-712
-
(1998)
J Med Genet
, vol.35
, pp. 705-712
-
-
Hunter, A.1
Bankier, A.2
Rogers, J.3
Sillence, D.4
Scott Jr., C.5
-
108
-
-
0017807899
-
Standard growth curves for achondroplasia
-
Horton W., Rotter J., Rimoin D., Scott C., and Hall J. Standard growth curves for achondroplasia. J Pediatr 93 (1978) 435-438
-
(1978)
J Pediatr
, vol.93
, pp. 435-438
-
-
Horton, W.1
Rotter, J.2
Rimoin, D.3
Scott, C.4
Hall, J.5
-
109
-
-
0030010517
-
Standard weight for height curves in achondroplasia
-
Hunter A., Hecht J., and Scott Jr. C. Standard weight for height curves in achondroplasia. Am J Med Genet 62 (1996) 255-261
-
(1996)
Am J Med Genet
, vol.62
, pp. 255-261
-
-
Hunter, A.1
Hecht, J.2
Scott Jr., C.3
-
110
-
-
0029960104
-
Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems
-
Hunter A., Reid C., Pauli R., and Scott Jr. C. Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems. Am J Med Genet 62 (1996) 91-97
-
(1996)
Am J Med Genet
, vol.62
, pp. 91-97
-
-
Hunter, A.1
Reid, C.2
Pauli, R.3
Scott Jr., C.4
-
111
-
-
0024328884
-
Growth of the foramen magnum in achondroplasia
-
Hecht J., Horton W., Reid C., Pyeritz R., and Chakraborty R. Growth of the foramen magnum in achondroplasia. Am J Med Genet 32 (1989) 528-535
-
(1989)
Am J Med Genet
, vol.32
, pp. 528-535
-
-
Hecht, J.1
Horton, W.2
Reid, C.3
Pyeritz, R.4
Chakraborty, R.5
-
112
-
-
0021967228
-
Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards
-
Hecht J., Nelson F., Butler I., et al. Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J Med Genet 20 (1985) 355-360
-
(1985)
Am J Med Genet
, vol.20
, pp. 355-360
-
-
Hecht, J.1
Nelson, F.2
Butler, I.3
-
113
-
-
0024356591
-
MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia
-
Kao S., Waziri M., Smith W., Sato Y., Yuh W., and Franken Jr. E. MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. Am J Roentgenol 153 (1989) 565-569
-
(1989)
Am J Roentgenol
, vol.153
, pp. 565-569
-
-
Kao, S.1
Waziri, M.2
Smith, W.3
Sato, Y.4
Yuh, W.5
Franken Jr., E.6
-
114
-
-
0035170804
-
Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction
-
Bruhl K., Stoeter P., Wietek B., et al. Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr 160 (2001) 10-20
-
(2001)
Eur J Pediatr
, vol.160
, pp. 10-20
-
-
Bruhl, K.1
Stoeter, P.2
Wietek, B.3
-
115
-
-
0024347941
-
Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension
-
Steinbok P., Hall J., and Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 71 (1989) 42-48
-
(1989)
J Neurosurg
, vol.71
, pp. 42-48
-
-
Steinbok, P.1
Hall, J.2
Flodmark, O.3
-
116
-
-
0001218073
-
Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia
-
Dennis J., Rosenberg H., and Alvord Jr. E. Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. Brain 84 (1961) 427-445
-
(1961)
Brain
, vol.84
, pp. 427-445
-
-
Dennis, J.1
Rosenberg, H.2
Alvord Jr., E.3
-
117
-
-
0019275146
-
Hydrocephalus and achondroplasia. A study of 25 observations
-
Pierre-Kahn A., Hirsch J., Renier D., Metzger J., and Maroteaux P. Hydrocephalus and achondroplasia. A study of 25 observations. Childs Brain 7 (1980) 205-219
-
(1980)
Childs Brain
, vol.7
, pp. 205-219
-
-
Pierre-Kahn, A.1
Hirsch, J.2
Renier, D.3
Metzger, J.4
Maroteaux, P.5
-
118
-
-
0035371478
-
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia
-
Reynolds K., Modaff P., and Pauli R. Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. Am J Med Genet 101 (2001) 40-45
-
(2001)
Am J Med Genet
, vol.101
, pp. 40-45
-
-
Reynolds, K.1
Modaff, P.2
Pauli, R.3
-
119
-
-
0023793119
-
Magnetic resonance imaging in the assessment of medullary compression in achondroplasia
-
Thomas I., Frias J., Williams J., and Friedman W. Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child 142 (1988) 989-992
-
(1988)
Am J Dis Child
, vol.142
, pp. 989-992
-
-
Thomas, I.1
Frias, J.2
Williams, J.3
Friedman, W.4
-
120
-
-
9644295972
-
Living with achondroplasia: quality of life evaluation following cervico-medullary decompression
-
Ho N., Guarnieri M., Brant L., et al. Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. Am J Med Genet A 131 (2004) 163-167
-
(2004)
Am J Med Genet A
, vol.131
, pp. 163-167
-
-
Ho, N.1
Guarnieri, M.2
Brant, L.3
-
121
-
-
0032771648
-
Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia
-
Boor R., Fricke G., Bruhl K., and Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Eur J Pediatr 158 (1999) 662-667
-
(1999)
Eur J Pediatr
, vol.158
, pp. 662-667
-
-
Boor, R.1
Fricke, G.2
Bruhl, K.3
Spranger, J.4
-
122
-
-
0021362896
-
Apnea and sudden unexpected death in infants with achondroplasia
-
Pauli R., Scott C., Wassman Jr. E., et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 104 (1984) 342-348
-
(1984)
J Pediatr
, vol.104
, pp. 342-348
-
-
Pauli, R.1
Scott, C.2
Wassman Jr., E.3
-
123
-
-
0028960402
-
Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression
-
Rimoin D. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet 56 (1995) 824-827
-
(1995)
Am J Hum Genet
, vol.56
, pp. 824-827
-
-
Rimoin, D.1
-
124
-
-
0023262012
-
Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction
-
Wang H., Rosenbaum A., Reid C., Zinreich S., and Pyeritz R. Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. Radiology 164 (1987) 515-519
-
(1987)
Radiology
, vol.164
, pp. 515-519
-
-
Wang, H.1
Rosenbaum, A.2
Reid, C.3
Zinreich, S.4
Pyeritz, R.5
-
125
-
-
0026063113
-
Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature
-
Colamaria V., Mazza C., Beltramello A., et al. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature. Brain Dev 13 (1991) 270-279
-
(1991)
Brain Dev
, vol.13
, pp. 270-279
-
-
Colamaria, V.1
Mazza, C.2
Beltramello, A.3
-
126
-
-
0037235973
-
Midface distraction to alleviate upper airway obstruction in achondroplastic dwarfs
-
Elwood E., Burstein F., Graham L., Williams J., and Paschal M. Midface distraction to alleviate upper airway obstruction in achondroplastic dwarfs. Cleft Palate Craniofac J 40 (2003) 100-103
-
(2003)
Cleft Palate Craniofac J
, vol.40
, pp. 100-103
-
-
Elwood, E.1
Burstein, F.2
Graham, L.3
Williams, J.4
Paschal, M.5
-
127
-
-
0023886013
-
Neurological basis of respiratory complications in achondroplasia
-
Nelson F., Hecht J., Horton W., Butler I., Goldie W., and Miner M. Neurological basis of respiratory complications in achondroplasia. Ann Neurol 24 (1988) 89-93
-
(1988)
Ann Neurol
, vol.24
, pp. 89-93
-
-
Nelson, F.1
Hecht, J.2
Horton, W.3
Butler, I.4
Goldie, W.5
Miner, M.6
-
128
-
-
0020537428
-
Respiratory complications of achondroplasia
-
Stokes D., Phillips J., Leonard C., et al. Respiratory complications of achondroplasia. J Pediatr 102 (1983) 534-541
-
(1983)
J Pediatr
, vol.102
, pp. 534-541
-
-
Stokes, D.1
Phillips, J.2
Leonard, C.3
-
129
-
-
0023864604
-
Spirometry and chest wall dimensions in achondroplasia
-
Stokes D., Pyeritz R., Wise R., Fairclough D., and Murphy E. Spirometry and chest wall dimensions in achondroplasia. Chest 93 (1988) 364-369
-
(1988)
Chest
, vol.93
, pp. 364-369
-
-
Stokes, D.1
Pyeritz, R.2
Wise, R.3
Fairclough, D.4
Murphy, E.5
-
130
-
-
0025358064
-
The lungs and airways in achondroplasia. Do little people have little lungs?
-
Stokes D., Wohl M., Wise R., Pyeritz R., and Fairclough D. The lungs and airways in achondroplasia. Do little people have little lungs?. Chest 98 (1990) 145-152
-
(1990)
Chest
, vol.98
, pp. 145-152
-
-
Stokes, D.1
Wohl, M.2
Wise, R.3
Pyeritz, R.4
Fairclough, D.5
-
131
-
-
0031880741
-
Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study
-
Tasker R., Dundas I., Laverty A., Fletcher M., Lane R., and Stocks J. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child 79 (1998) 99-108
-
(1998)
Arch Dis Child
, vol.79
, pp. 99-108
-
-
Tasker, R.1
Dundas, I.2
Laverty, A.3
Fletcher, M.4
Lane, R.5
Stocks, J.6
-
132
-
-
0027293862
-
Breathing abnormalities in sleep in achondroplasia
-
Waters K., Everett F., Sillence D., Fagan E., and Sullivan C. Breathing abnormalities in sleep in achondroplasia. Arch Dis Child 69 (1993) 191-196
-
(1993)
Arch Dis Child
, vol.69
, pp. 191-196
-
-
Waters, K.1
Everett, F.2
Sillence, D.3
Fagan, E.4
Sullivan, C.5
-
133
-
-
0028799024
-
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials
-
Waters K., Everett F., Sillence D., Fagan E., and Sullivan C. Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet 59 (1995) 460-466
-
(1995)
Am J Med Genet
, vol.59
, pp. 460-466
-
-
Waters, K.1
Everett, F.2
Sillence, D.3
Fagan, E.4
Sullivan, C.5
-
134
-
-
0030376140
-
Sleep and upper airway obstruction in children with achondroplasia
-
Zucconi M., Weber G., Castronovo V., et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr 129 (1996) 743-749
-
(1996)
J Pediatr
, vol.129
, pp. 743-749
-
-
Zucconi, M.1
Weber, G.2
Castronovo, V.3
-
135
-
-
0031901551
-
Sleep-disordered breathing in children with achondroplasia
-
Mogayzel Jr. P., Carroll J., Loughlin G., Hurko O., Francomano C., and Marcus C. Sleep-disordered breathing in children with achondroplasia. J Pediatr 132 (1998) 667-671
-
(1998)
J Pediatr
, vol.132
, pp. 667-671
-
-
Mogayzel Jr., P.1
Carroll, J.2
Loughlin, G.3
Hurko, O.4
Francomano, C.5
Marcus, C.6
-
136
-
-
0032985746
-
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations
-
Sisk E., Heatley D., Borowski B., Leverson G., and Pauli R. Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. Otolaryngol Head Neck Surg 120 (1999) 248-254
-
(1999)
Otolaryngol Head Neck Surg
, vol.120
, pp. 248-254
-
-
Sisk, E.1
Heatley, D.2
Borowski, B.3
Leverson, G.4
Pauli, R.5
-
137
-
-
0019011118
-
Genetics clinics of The Johns Hopkins Hospital. Surgical intervention in achondroplasia. Correction of bowleg deformity in achondroplasia
-
Kopits S. Genetics clinics of The Johns Hopkins Hospital. Surgical intervention in achondroplasia. Correction of bowleg deformity in achondroplasia. Johns Hopkins Med J 146 (1980) 206-209
-
(1980)
Johns Hopkins Med J
, vol.146
, pp. 206-209
-
-
Kopits, S.1
-
138
-
-
0036205240
-
Observations on the cause of bowlegs in achondroplasia
-
Stanley G., McLoughlin S., and Beals R. Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop 22 (2002) 112-116
-
(2002)
J Pediatr Orthop
, vol.22
, pp. 112-116
-
-
Stanley, G.1
McLoughlin, S.2
Beals, R.3
-
139
-
-
0027186630
-
Achondroplasia and spinal cord lesion. Three case reports
-
Hamamci N., Hawran S., and Biering-Sorensen F. Achondroplasia and spinal cord lesion. Three case reports. Paraplegia 31 (1993) 375-379
-
(1993)
Paraplegia
, vol.31
, pp. 375-379
-
-
Hamamci, N.1
Hawran, S.2
Biering-Sorensen, F.3
-
140
-
-
0023472545
-
Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients
-
Pyeritz R., Sack Jr. G., and Udvarhelyi G. Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am J Med Genet 28 (1987) 433-444
-
(1987)
Am J Med Genet
, vol.28
, pp. 433-444
-
-
Pyeritz, R.1
Sack Jr., G.2
Udvarhelyi, G.3
-
141
-
-
0023790661
-
Obesity in achondroplasia
-
Hecht J., Hood O., Schwartz R., Hennessey J., Bernhardt B., and Horton W. Obesity in achondroplasia. Am J Med Genet 31 (1988) 597-602
-
(1988)
Am J Med Genet
, vol.31
, pp. 597-602
-
-
Hecht, J.1
Hood, O.2
Schwartz, R.3
Hennessey, J.4
Bernhardt, B.5
Horton, W.6
-
142
-
-
0022657486
-
Obstetric and gynecologic problems in women with chondrodystrophies
-
Allanson J., and Hall J. Obstetric and gynecologic problems in women with chondrodystrophies. Obstet Gynecol 67 (1986) 74-78
-
(1986)
Obstet Gynecol
, vol.67
, pp. 74-78
-
-
Allanson, J.1
Hall, J.2
-
144
-
-
0026095193
-
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
-
Hecht J., Thompson N., Weir T., Patchell L., and Horton W. Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates. Am J Med Genet 41 (1991) 208-211
-
(1991)
Am J Med Genet
, vol.41
, pp. 208-211
-
-
Hecht, J.1
Thompson, N.2
Weir, T.3
Patchell, L.4
Horton, W.5
-
147
-
-
0031158405
-
Biophysical bases for delayed and aberrant motor development in young children with achondroplasia
-
Fowler E., Glinski L., Reiser C., Horton V., and Pauli R. Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. J Dev Behav Pediatr 18 (1997) 143-150
-
(1997)
J Dev Behav Pediatr
, vol.18
, pp. 143-150
-
-
Fowler, E.1
Glinski, L.2
Reiser, C.3
Horton, V.4
Pauli, R.5
-
148
-
-
0025060256
-
Comparison of education and occupation of adults with achondroplasia with same-sex sibs
-
Roizen N., Ekwo E., and Gosselink C. Comparison of education and occupation of adults with achondroplasia with same-sex sibs. Am J Med Genet 35 (1990) 257-260
-
(1990)
Am J Med Genet
, vol.35
, pp. 257-260
-
-
Roizen, N.1
Ekwo, E.2
Gosselink, C.3
-
149
-
-
0033574383
-
Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia
-
Thompson N., Hecht J., Bohan T., et al. Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet 88 (1999) 145-153
-
(1999)
Am J Med Genet
, vol.88
, pp. 145-153
-
-
Thompson, N.1
Hecht, J.2
Bohan, T.3
-
150
-
-
0042324232
-
Living with achondroplasia in an average-sized world: an assessment of quality of life
-
Gollust S., Thompson R., Gooding H., and Biesecker B. Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A 120 (2003) 447-458
-
(2003)
Am J Med Genet A
, vol.120
, pp. 447-458
-
-
Gollust, S.1
Thompson, R.2
Gooding, H.3
Biesecker, B.4
-
151
-
-
0031866547
-
Functional health status of adults with achondroplasia
-
Mahomed N., Spellmann M., and Goldberg M. Functional health status of adults with achondroplasia. Am J Med Genet 78 (1998) 30-35
-
(1998)
Am J Med Genet
, vol.78
, pp. 30-35
-
-
Mahomed, N.1
Spellmann, M.2
Goldberg, M.3
-
152
-
-
0026510663
-
Growth hormone therapy in achondroplasia
-
Horton W., Hecht J., Hood O., Marshall R., Moore W., and Hollowell J. Growth hormone therapy in achondroplasia. Am J Med Genet 42 (1992) 667-670
-
(1992)
Am J Med Genet
, vol.42
, pp. 667-670
-
-
Horton, W.1
Hecht, J.2
Hood, O.3
Marshall, R.4
Moore, W.5
Hollowell, J.6
-
153
-
-
0035111351
-
Present status of the use of growth hormone in short children with bone diseases (diseases of the skeleton)
-
Kanaka-Gantenbein C. Present status of the use of growth hormone in short children with bone diseases (diseases of the skeleton). J Pediatr Endocrinol Metab 14 (2001) 17-26
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, pp. 17-26
-
-
Kanaka-Gantenbein, C.1
-
154
-
-
84995056594
-
Therapeutic benefit of growth hormone in achrondroplastic dwarfism
-
Kodama H., Okabe I., and Yanagisawa M. Therapeutic benefit of growth hormone in achrondroplastic dwarfism. Acta Paediatr Jpn 32 (1990) 323-324
-
(1990)
Acta Paediatr Jpn
, vol.32
, pp. 323-324
-
-
Kodama, H.1
Okabe, I.2
Yanagisawa, M.3
-
155
-
-
0027280682
-
Growth hormone therapy in achondroplasia
-
Nishi Y., Kajiyama M., Miyagawa S., Fujiwara M., and Hamamoto K. Growth hormone therapy in achondroplasia. Acta Endocrinol (Copenh) 128 (1993) 394-396
-
(1993)
Acta Endocrinol (Copenh)
, vol.128
, pp. 394-396
-
-
Nishi, Y.1
Kajiyama, M.2
Miyagawa, S.3
Fujiwara, M.4
Hamamoto, K.5
-
156
-
-
84995094276
-
Growth-promoting effect of human growth hormone on patients with achondroplasia
-
Okabe T., Nishikawa K., Miyamori C., and Sato T. Growth-promoting effect of human growth hormone on patients with achondroplasia. Acta Paediatr Jpn 33 (1991) 357-362
-
(1991)
Acta Paediatr Jpn
, vol.33
, pp. 357-362
-
-
Okabe, T.1
Nishikawa, K.2
Miyamori, C.3
Sato, T.4
-
157
-
-
0033823221
-
Growth hormone therapy in achondroplasia
-
Seino Y., Yamanaka Y., Shinohara M., et al. Growth hormone therapy in achondroplasia. Horm Res 53 suppl 3 (2000) 53-56
-
(2000)
Horm Res
, vol.53
, Issue.SUPPL. 3
, pp. 53-56
-
-
Seino, Y.1
Yamanaka, Y.2
Shinohara, M.3
-
158
-
-
0029794956
-
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia
-
Shohat M., Tick D., Barakat S., Bu X., Melmed S., and Rimoin D. Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. J Clin Endocrinol Metab 81 (1996) 4033-4037
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4033-4037
-
-
Shohat, M.1
Tick, D.2
Barakat, S.3
Bu, X.4
Melmed, S.5
Rimoin, D.6
-
159
-
-
0030928105
-
Growth and growth hormone therapy in children with achondroplasia: a two-year experience
-
Stamoyannou L., Karachaliou F., Neou P., Papataxiarchou K., Pistevos G., and Bartsocas C. Growth and growth hormone therapy in children with achondroplasia: a two-year experience. Am J Med Genet 72 (1997) 71-76
-
(1997)
Am J Med Genet
, vol.72
, pp. 71-76
-
-
Stamoyannou, L.1
Karachaliou, F.2
Neou, P.3
Papataxiarchou, K.4
Pistevos, G.5
Bartsocas, C.6
-
160
-
-
0030020454
-
Human growth hormone treatment in prepubertal children with achondroplasia
-
Weber G., Prinster C., Meneghel M., et al. Human growth hormone treatment in prepubertal children with achondroplasia. Am J Med Genet 61 (1996) 396-400
-
(1996)
Am J Med Genet
, vol.61
, pp. 396-400
-
-
Weber, G.1
Prinster, C.2
Meneghel, M.3
-
161
-
-
0034909417
-
Limb lengthening in short stature patients
-
Aldegheri R., and Dall'Oca C. Limb lengthening in short stature patients. J Pediatr Orthop B 10 (2001) 238-247
-
(2001)
J Pediatr Orthop B
, vol.10
, pp. 238-247
-
-
Aldegheri, R.1
Dall'Oca, C.2
-
162
-
-
0023841755
-
Lengthening of the lower limbs in achondroplastic patients. A comparative study of four techniques
-
Aldegheri R., Trivella G., Renzi-Brivio L., Tessari G., Agostini S., and Lavini F. Lengthening of the lower limbs in achondroplastic patients. A comparative study of four techniques. J Bone Joint Surg Br 70 (1988) 69-73
-
(1988)
J Bone Joint Surg Br
, vol.70
, pp. 69-73
-
-
Aldegheri, R.1
Trivella, G.2
Renzi-Brivio, L.3
Tessari, G.4
Agostini, S.5
Lavini, F.6
-
163
-
-
0029828998
-
Limb lengthening in children with achondroplasia. Differences based on gender
-
Ganel A., and Horoszowski H. Limb lengthening in children with achondroplasia. Differences based on gender. Clin Orthop Relat Res 332 (1996) 179-183
-
(1996)
Clin Orthop Relat Res
, vol.332
, pp. 179-183
-
-
Ganel, A.1
Horoszowski, H.2
-
164
-
-
0025169937
-
Psychologic, vascular, and physiologic aspects of lower limb lengthening in achondroplastics
-
Lavini F., Renzi-Brivio L., and de Bastiani G. Psychologic, vascular, and physiologic aspects of lower limb lengthening in achondroplastics. Clin Orthop Relat Res 250 (1990) 138-142
-
(1990)
Clin Orthop Relat Res
, vol.250
, pp. 138-142
-
-
Lavini, F.1
Renzi-Brivio, L.2
de Bastiani, G.3
-
165
-
-
0025991896
-
Leg lengthening: patient selection and management in achondroplasia
-
Saleh M., and Burton M. Leg lengthening: patient selection and management in achondroplasia. Orthop Clin North Am 22 (1991) 589-599
-
(1991)
Orthop Clin North Am
, vol.22
, pp. 589-599
-
-
Saleh, M.1
Burton, M.2
-
166
-
-
0025191420
-
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia
-
Vilarrubias J., Ginebreda I., and Jimeno E. Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. Clin Orthop Relat Res 250 (1990) 143-149
-
(1990)
Clin Orthop Relat Res
, vol.250
, pp. 143-149
-
-
Vilarrubias, J.1
Ginebreda, I.2
Jimeno, E.3
-
167
-
-
0037861955
-
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia-genetic short limbed dwarfism
-
Aviezer D., Golembo M., and Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia-genetic short limbed dwarfism. Curr Drug Targets 4 (2003) 353-365
-
(2003)
Curr Drug Targets
, vol.4
, pp. 353-365
-
-
Aviezer, D.1
Golembo, M.2
Yayon, A.3
-
168
-
-
0141866900
-
Human combinatorial Fab library yielding specific and functional antibodies against the human fibroblast growth factor receptor 3
-
Rauchenberger R., Borges E., Thomassen-Wolf E., et al. Human combinatorial Fab library yielding specific and functional antibodies against the human fibroblast growth factor receptor 3. J Biol Chem 278 (2003) 38194-38205
-
(2003)
J Biol Chem
, vol.278
, pp. 38194-38205
-
-
Rauchenberger, R.1
Borges, E.2
Thomassen-Wolf, E.3
-
169
-
-
11144358656
-
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway
-
Yasoda A., Komatsu Y., Chusho H., et al. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med 10 (2004) 80-86
-
(2004)
Nat Med
, vol.10
, pp. 80-86
-
-
Yasoda, A.1
Komatsu, Y.2
Chusho, H.3
-
170
-
-
32444444836
-
Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions
-
Potter L., Abbey-Hosch S., and Dickey D. Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. Endocrine Rev 27 (2006) 47-72
-
(2006)
Endocrine Rev
, vol.27
, pp. 47-72
-
-
Potter, L.1
Abbey-Hosch, S.2
Dickey, D.3
-
171
-
-
33644984584
-
Perioperative effects and safety of nesiritide following cardiac surgery in children
-
Simsic J., Scheurer M., Tobias J., et al. Perioperative effects and safety of nesiritide following cardiac surgery in children. J Intensive Care Med 21 (2006) 22-26
-
(2006)
J Intensive Care Med
, vol.21
, pp. 22-26
-
-
Simsic, J.1
Scheurer, M.2
Tobias, J.3
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