메뉴 건너뛰기




Volumn 22, Issue 1, 2008, Pages 3-18

Achondroplasia

Author keywords

achondroplasia; clinical features; differential diagnosis; management; molecular pathogenesis

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; HUMAN GROWTH HORMONE;

EID: 40149087703     PISSN: 15216942     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.berh.2007.12.008     Document Type: Review
Times cited : (118)

References (70)
  • 1
    • 40149100867 scopus 로고    scopus 로고
    • Maroteaux P, Le Merrer M. L'achondroplasie. In: Maladies Osseuses de l'Enfant. 4th edn. Paris, 2002, pp. 56-65.
    • Maroteaux P, Le Merrer M. L'achondroplasie. In: Maladies Osseuses de l'Enfant. 4th edn. Paris, 2002, pp. 56-65.
  • 2
    • 0018379162 scopus 로고
    • Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine
    • Oberklaid F., Danks D.M., Jensen F., et al. Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. Journal of Medical Genetics 16 (1979) 140-146
    • (1979) Journal of Medical Genetics , vol.16 , pp. 140-146
    • Oberklaid, F.1    Danks, D.M.2    Jensen, F.3
  • 5
    • 0025981954 scopus 로고
    • Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal dominant malformation syndromes
    • Martinez-Frias M.L., Cereijo A., Bermejo E., et al. Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal dominant malformation syndromes. American Journal of Medical Genetics 38 (1991) 622-625
    • (1991) American Journal of Medical Genetics , vol.38 , pp. 622-625
    • Martinez-Frias, M.L.1    Cereijo, A.2    Bermejo, E.3
  • 6
    • 40149110429 scopus 로고    scopus 로고
    • Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies
    • [Epub ahead of print]
    • Dakouane Giudicelli M., Serazin V., Le Sciellour C.R., et al. Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies. Fertility and Sterility 11 (2007) [Epub ahead of print]
    • (2007) Fertility and Sterility , vol.11
    • Dakouane Giudicelli, M.1    Serazin, V.2    Le Sciellour, C.R.3
  • 7
    • 0027289545 scopus 로고
    • Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation
    • Cordone M., Lituania M., Bocchino G., et al. Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. Prenatal Diagnosis 13 (1993) 395-401
    • (1993) Prenatal Diagnosis , vol.13 , pp. 395-401
    • Cordone, M.1    Lituania, M.2    Bocchino, G.3
  • 8
    • 0029801595 scopus 로고    scopus 로고
    • 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. Prenatal Diagnosis 16 (1996) 764-768
    • (1996) Prenatal Diagnosis , vol.16 , pp. 764-768
    • Mesoraca, A.1    Pilu, G.2    Perolo, A.3
  • 9
    • 0038189916 scopus 로고    scopus 로고
    • Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias
    • Krakow D., Williams III J., Poehl M., et al. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound in Obstetrics & Gynecology 21 (2003) 467-472
    • (2003) Ultrasound in Obstetrics & Gynecology , vol.21 , pp. 467-472
    • Krakow, D.1    Williams III, J.2    Poehl, M.3
  • 10
    • 4043074926 scopus 로고    scopus 로고
    • Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography
    • Ruano R., Molho M., Roume J., and Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound in Obstetrics & Gynecology 24 (2004) 134-140
    • (2004) Ultrasound in Obstetrics & Gynecology , vol.24 , pp. 134-140
    • Ruano, R.1    Molho, M.2    Roume, J.3    Ville, Y.4
  • 11
    • 33644620626 scopus 로고    scopus 로고
    • American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia
    • Trotter T.L., and Hall J.G. American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 116 (2005) 771-783
    • (2005) Pediatrics , vol.116 , pp. 771-783
    • Trotter, T.L.1    Hall, J.G.2
  • 15
    • 0031819322 scopus 로고    scopus 로고
    • Medical complications of achondroplasia: a multicentre patient review
    • Hunter A.G.W., Bankier A., Rogers J.G., et al. Medical complications of achondroplasia: a multicentre patient review. Journal of Medical Genetics 35 (1998) 705-712
    • (1998) Journal of Medical Genetics , vol.35 , pp. 705-712
    • Hunter, A.G.W.1    Bankier, A.2    Rogers, J.G.3
  • 16
    • 33846335205 scopus 로고    scopus 로고
    • Advances in understanding etiology of achondroplasia and review of management
    • Carter E.M., Davis J.G., and Raggio C.L. Advances in understanding etiology of achondroplasia and review of management. Current Opinion in Pediatrics 19 (2007) 32-37
    • (2007) Current Opinion in Pediatrics , vol.19 , pp. 32-37
    • Carter, E.M.1    Davis, J.G.2    Raggio, C.L.3
  • 17
    • 0035170804 scopus 로고    scopus 로고
    • 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. European Journal of Pediatrics 160 (2001) 10-20
    • (2001) European Journal of Pediatrics , vol.160 , pp. 10-20
    • Bruhl, K.1    Stoeter, P.2    Wietek, B.3
  • 19
    • 0019275146 scopus 로고
    • Hydrocephalus and achondroplasia. A study of 25 observations
    • Pierre-Kahn A., Hirsch J.F., Renier D., et al. Hydrocephalus and achondroplasia. A study of 25 observations. Child's Brain 7 (1980) 205-219
    • (1980) Child's Brain , vol.7 , pp. 205-219
    • Pierre-Kahn, A.1    Hirsch, J.F.2    Renier, D.3
  • 20
    • 0023156987 scopus 로고
    • Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation
    • Reid C.S., Pyeritz R.E., Kopits S.E., et al. Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. The Journal of Pediatrics 110 (1987) 522-530
    • (1987) The Journal of Pediatrics , vol.110 , pp. 522-530
    • Reid, C.S.1    Pyeritz, R.E.2    Kopits, S.E.3
  • 21
    • 0028291527 scopus 로고
    • Cervicomedullary compression in achondroplasia
    • Ryken T.C., and Menezes A.H. Cervicomedullary compression in achondroplasia. Journal of Neurosurgery 81 (1994) 43-48
    • (1994) Journal of Neurosurgery , vol.81 , pp. 43-48
    • Ryken, T.C.1    Menezes, A.H.2
  • 22
    • 33645727651 scopus 로고    scopus 로고
    • Cervicomedullary decompression for foramen magnum stenosis in achondroplasia
    • Bagley C.A., Pindrik J.A., Bookland M.J., et al. Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. Journal of Neurosurgery 104 (2006) 166-172
    • (2006) Journal of Neurosurgery , vol.104 , pp. 166-172
    • Bagley, C.A.1    Pindrik, J.A.2    Bookland, M.J.3
  • 23
    • 0028960402 scopus 로고
    • Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression
    • Rimoin D.L. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. American Journal of Human Genetics 56 (1995) 824-827
    • (1995) American Journal of Human Genetics , vol.56 , pp. 824-827
    • Rimoin, D.L.1
  • 24
    • 9644295972 scopus 로고    scopus 로고
    • Living with achondroplasia: quality of life evaluation following cervico-medullary decompression
    • Ho N.C., Guarnieri M., and Brant L.J. Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. American Journal of Medical Genetics. Part A 131 (2004) 163-167
    • (2004) American Journal of Medical Genetics. Part A , vol.131 , pp. 163-167
    • Ho, N.C.1    Guarnieri, M.2    Brant, L.J.3
  • 25
    • 0032771648 scopus 로고    scopus 로고
    • Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia
    • Boor R., Fricke G., Brühl K., and Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. European Journal of Pediatrics 158 (1999) 662-667
    • (1999) European Journal of Pediatrics , vol.158 , pp. 662-667
    • Boor, R.1    Fricke, G.2    Brühl, K.3    Spranger, J.4
  • 26
    • 34250818812 scopus 로고    scopus 로고
    • Spinal stenosis surgery in pediatric patients with achondroplasia
    • Sciubba D.M., Noggle J.C., Marupudi N.I., et al. Spinal stenosis surgery in pediatric patients with achondroplasia. Journal of Neurosurgery 106 (2007) 372-378
    • (2007) Journal of Neurosurgery , vol.106 , pp. 372-378
    • Sciubba, D.M.1    Noggle, J.C.2    Marupudi, N.I.3
  • 28
    • 0019011118 scopus 로고
    • Correction of bowleg deformity in achondroplasia
    • Kopits S.E. Correction of bowleg deformity in achondroplasia. The Johns Hopkins Medical Journal 146 (1980) 206-209
    • (1980) The Johns Hopkins Medical Journal , vol.146 , pp. 206-209
    • Kopits, S.E.1
  • 29
    • 0021362896 scopus 로고
    • Apnea and sudden unexpected death in infants with achondroplasia
    • Pauli R.M., Scott C.I., Wassman Jr. E.R., et al. Apnea and sudden unexpected death in infants with achondroplasia. The Journal of Pediatrics 104 (1984) 342-348
    • (1984) The Journal of Pediatrics , vol.104 , pp. 342-348
    • Pauli, R.M.1    Scott, C.I.2    Wassman Jr., E.R.3
  • 31
    • 0028799024 scopus 로고
    • Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials
    • Waters K.A., Everett F., Sillence D.O., et al. Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. American Journal of Medical Genetics 59 (1995) 460-466
    • (1995) American Journal of Medical Genetics , vol.59 , pp. 460-466
    • Waters, K.A.1    Everett, F.2    Sillence, D.O.3
  • 32
    • 0031880741 scopus 로고    scopus 로고
    • Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study
    • Tasker R.C., Dundas I., Laverty A., et al. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Archives of Disease in Childhood 79 (1998) 99-108
    • (1998) Archives of Disease in Childhood , vol.79 , pp. 99-108
    • Tasker, R.C.1    Dundas, I.2    Laverty, A.3
  • 35
    • 0017614619 scopus 로고
    • A new estimate of the achondroplasia mutation rate
    • Gardner R.J.M. A new estimate of the achondroplasia mutation rate. Clinical Genetics 11 (1977) 31-38
    • (1977) Clinical Genetics , vol.11 , pp. 31-38
    • Gardner, R.J.M.1
  • 36
    • 0028365599 scopus 로고
    • A gene for achondroplasia-hypochondroplasia maps to chromosome 4p
    • Le Merrer M., Rousseau F., Legeai-Mallet L., et al. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Nature Genetics 6 (1994) 318-321
    • (1994) Nature Genetics , vol.6 , pp. 318-321
    • Le Merrer, M.1    Rousseau, F.2    Legeai-Mallet, L.3
  • 37
    • 0028339047 scopus 로고
    • The gene for achondroplasia maps to the telomeric region of chromosome 4p
    • Velinov M., Slaugenhaupt S.A., Stoilov I., et al. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nature Genetics 6 (1994) 314-317
    • (1994) Nature Genetics , vol.6 , pp. 314-317
    • Velinov, M.1    Slaugenhaupt, S.A.2    Stoilov, I.3
  • 39
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang R., Thompson L.M., Zhu Y.Z., 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.M.2    Zhu, Y.Z.3
  • 41
    • 0021714847 scopus 로고
    • Editorial comment: unstable premutation in achondroplasia: penetrance vs phenotrance
    • Opitz J.M. Editorial comment: unstable premutation in achondroplasia: penetrance vs phenotrance. American Journal of Medical Genetics 19 (1984) 251-254
    • (1984) American Journal of Medical Genetics , vol.19 , pp. 251-254
    • Opitz, J.M.1
  • 43
    • 0020523317 scopus 로고
    • Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents
    • Fryns J.P., Kleczkowska A., Verresen H., and van den Berghe H. Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. Clinical Genetics 24 (1983) 156-158
    • (1983) Clinical Genetics , vol.24 , pp. 156-158
    • Fryns, J.P.1    Kleczkowska, A.2    Verresen, H.3    van den Berghe, H.4
  • 44
    • 0034737054 scopus 로고    scopus 로고
    • Recurrence risk for sibs of children with 'sporadic' achondroplasia
    • Mettler G., and Fraser F.C. Recurrence risk for sibs of children with 'sporadic' achondroplasia. American Journal of Medical Genetics 90 (2000) 250-251
    • (2000) American Journal of Medical Genetics , vol.90 , pp. 250-251
    • Mettler, G.1    Fraser, F.C.2
  • 46
    • 0032231407 scopus 로고    scopus 로고
    • Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
    • Wilkin D.J., Szabo J.K., Cameron R., et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. American Journal of Medical Genetics 63 (1998) 711-716
    • (1998) American Journal of Medical Genetics , vol.63 , pp. 711-716
    • Wilkin, D.J.1    Szabo, J.K.2    Cameron, R.3
  • 48
    • 0029032394 scopus 로고
    • A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
    • Bellus G.A., McIntosch I., Smith A.E., et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genetics 10 (1995) 357-359
    • (1995) Nature Genetics , vol.10 , pp. 357-359
    • Bellus, G.A.1    McIntosch, I.2    Smith, A.E.3
  • 49
    • 0033778874 scopus 로고    scopus 로고
    • L.Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia
    • Grigelioniene G., Eklof O., Laurencikas E., et al. L.Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. Acta Paediatrica 89 (2000) 1072-1076
    • (2000) Acta Paediatrica , vol.89 , pp. 1072-1076
    • Grigelioniene, G.1    Eklof, O.2    Laurencikas, E.3
  • 50
    • 0033659625 scopus 로고    scopus 로고
    • Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
    • Bellus G.A., Spector E.B., Speiser P.W., et al. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. American Journal of Human Genetics 67 (2000) 1411-1421
    • (2000) American Journal of Human Genetics , vol.67 , pp. 1411-1421
    • Bellus, G.A.1    Spector, E.B.2    Speiser, P.W.3
  • 51
    • 0034707489 scopus 로고    scopus 로고
    • A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia
    • Winterpacht A., Hilbert K., Stelzer C., et al. A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiological Genomics 2 (2000) 9-12
    • (2000) Physiological Genomics , vol.2 , pp. 9-12
    • Winterpacht, A.1    Hilbert, K.2    Stelzer, C.3
  • 52
    • 0028924820 scopus 로고
    • A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia
    • Stoilov I., Kilpatrick M.W., and Tsipouras P. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. American Journal of Human Genetics 55 (1995) 127-133
    • (1995) American Journal of Human Genetics , vol.55 , pp. 127-133
    • Stoilov, I.1    Kilpatrick, M.W.2    Tsipouras, P.3
  • 53
    • 0034464005 scopus 로고    scopus 로고
    • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
    • Vajo Z., Francomano C.A., and Wilkin D.J. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocrine Reviews 21 (2000) 23-39
    • (2000) Endocrine Reviews , vol.21 , pp. 23-39
    • Vajo, Z.1    Francomano, C.A.2    Wilkin, D.J.3
  • 54
    • 0033361757 scopus 로고    scopus 로고
    • 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.L., Bellus G.A., and Webster M.K. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. American Journal of Human Genetics 64 (1999) 722-731
    • (1999) American Journal of Human Genetics , vol.64 , pp. 722-731
    • Tavormina, P.L.1    Bellus, G.A.2    Webster, M.K.3
  • 55
    • 0029767878 scopus 로고    scopus 로고
    • Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia
    • Rousseau F., Bonaventure J., Le Merrer M., et al. Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia. Annales d'endocrinologie (Paris) 57 (1996) 153
    • (1996) Annales d'endocrinologie (Paris) , vol.57 , pp. 153
    • Rousseau, F.1    Bonaventure, J.2    Le Merrer, M.3
  • 56
    • 16944367030 scopus 로고    scopus 로고
    • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
    • Muenke M., Gripp K.W., McDonald-McGinn D.M., et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. American Journal of Human Genetics 60 (1997) 555-564
    • (1997) American Journal of Human Genetics , vol.60 , pp. 555-564
    • Muenke, M.1    Gripp, K.W.2    McDonald-McGinn, D.M.3
  • 57
    • 0034644539 scopus 로고    scopus 로고
    • 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
  • 58
    • 34848916087 scopus 로고    scopus 로고
    • Pejchalova K, Krejci P, Wilcox WR. C-natriuretic peptide: an important regulator of cartilage. Molecular Genetics and Metabolism 92: 210-215.
    • Pejchalova K, Krejci P, Wilcox WR. C-natriuretic peptide: an important regulator of cartilage. Molecular Genetics and Metabolism 92: 210-215.
  • 59
    • 33947331068 scopus 로고    scopus 로고
    • FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation
    • Gibbs L., and Legeai-Mallet L. FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation. Biochimica Et Biophysica Acta 1773 (2007) 502-512
    • (2007) Biochimica Et Biophysica Acta , vol.1773 , pp. 502-512
    • Gibbs, L.1    Legeai-Mallet, L.2
  • 60
    • 33746754183 scopus 로고    scopus 로고
    • Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi
    • Hafner C., van Oers J.M., Tb V., et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. The Journal of Clinical Investigation 116 (2006) 2201-2207
    • (2006) The Journal of Clinical Investigation , vol.116 , pp. 2201-2207
    • Hafner, C.1    van Oers, J.M.2    Tb, V.3
  • 61
    • 0346847511 scopus 로고    scopus 로고
    • Living with achondroplasia: attitudes toward population screening and correlation with quality of life
    • Gollust S.E., Thompson R.E., Gooding H.C., and Biesecker B.B. Living with achondroplasia: attitudes toward population screening and correlation with quality of life. Prenatal Diagnosis 23 (2003) 1003-1008
    • (2003) Prenatal Diagnosis , vol.23 , pp. 1003-1008
    • Gollust, S.E.1    Thompson, R.E.2    Gooding, H.C.3    Biesecker, B.B.4
  • 63
    • 0029794956 scopus 로고    scopus 로고
    • Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia
    • Shohat M., Tick D., Barakat S., et al. Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. Journal of Clinical Endocrinology & Metabolism 81 (1996) 4033-4037
    • (1996) Journal of Clinical Endocrinology & Metabolism , vol.81 , pp. 4033-4037
    • Shohat, M.1    Tick, D.2    Barakat, S.3
  • 65
    • 0023841755 scopus 로고
    • Lengthening of the lower limbs in achondroplastic patients. A comparative study of four techniques
    • Aldegheri R., Trivella G., Renzi-Brivio L., et al. Lengthening of the lower limbs in achondroplastic patients. A comparative study of four techniques. The Journal of Bone and Joint Surgery 70B (1988) 69-73
    • (1988) The Journal of Bone and Joint Surgery , vol.70 B , pp. 69-73
    • Aldegheri, R.1    Trivella, G.2    Renzi-Brivio, L.3
  • 66
    • 0025169937 scopus 로고
    • Psychologic, vascular, and physiologic aspects of lower limb lengthening inachondroplastics
    • Lavini F., Renzi-Brivio L., and de Bastiani G. Psychologic, vascular, and physiologic aspects of lower limb lengthening inachondroplastics. Clinical Orthopaedics and Related Research 250 (1990) 138-142
    • (1990) Clinical Orthopaedics and Related Research , vol.250 , pp. 138-142
    • Lavini, F.1    Renzi-Brivio, L.2    de Bastiani, G.3
  • 67
    • 85118904256 scopus 로고    scopus 로고
    • Ganel A, Horoszowski H, Kamhin M, Farine I. Leg lengthening in achondroplastic children. 1979; 144: 194-197.
    • Ganel A, Horoszowski H, Kamhin M, Farine I. Leg lengthening in achondroplastic children. 1979; 144: 194-197.
  • 68
    • 0141866900 scopus 로고    scopus 로고
    • 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. The Journal of Biological Chemistry 278 (2003) 194-205
    • (2003) The Journal of Biological Chemistry , vol.278 , pp. 194-205
    • Rauchenberger, R.1    Borges, E.2    Thomassen-Wolf, E.3
  • 69
    • 11144358656 scopus 로고    scopus 로고
    • 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. Natural Medicines 101 (2004) 80-86
    • (2004) Natural Medicines , vol.101 , pp. 80-86
    • Yasoda, A.1    Komatsu, Y.2    Chusho, H.3
  • 70
    • 34249715395 scopus 로고    scopus 로고
    • Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias
    • Benoist-Lasselin C., Gibbs L., Heuertz S., Odent T., Munnich A., and Legeai-Mallet L. Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias. FEBS Letters 581 (2007) 2593-2598
    • (2007) FEBS Letters , vol.581 , pp. 2593-2598
    • Benoist-Lasselin, C.1    Gibbs, L.2    Heuertz, S.3    Odent, T.4    Munnich, A.5    Legeai-Mallet, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.