Achondroplasia is an autosomal dominant disorder caused by mutations of the FGFR3 gene.
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McKusick VA et al. (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. |
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Superti-Furga A et al. (1995) A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. |
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Bellus GA et al. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3. |
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Shiang R et al. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. |
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Rousseau F et al. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. |
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Huggins MJ et al. (1999) Achondroplasia-hypochondroplasia complex in a newborn infant. |
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Chitayat D et al. (1999) Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. |
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Henderson S et al. (2000) Germline and somatic mosaicism in achondroplasia. |
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Sobetzko D et al. (2000) Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. |
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Yasoda A et al. (2004) Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. |
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Van Esch H et al. (2004) Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. |
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Rump P et al. (2006) Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. |
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Heuertz S et al. (2006) Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. |
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Natacci F et al. (2008) Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. |
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Matsushita T et al. (2009) FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. |
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Siebens AA et al. (1978) Curves of the achondroplastic spine: a new hypothesis. |
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Oberklaid F et al. (1979) Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. |
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Hall JG et al. (1979) Failure to early prenatal diagnosis in classic achondroplasia. |
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Horton WA et al. (1978) Standard growth curves for achondroplasia. |
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None (1977) A new estimate of the achondroplasia mutation rate. |
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Yang SS et al. (1977) Upper cervical myelopathy in achondroplasia. |
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Young ID et al. (1992) Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. |
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Horton WA et al. (1992) Growth hormone therapy in achondroplasia. |
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Finkelstein JE et al. (1991) Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. |
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Hecht JT et al. (1991) Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates. |
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Verloes A et al. (1991) Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? |
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Martínez-Frías ML et al. (1991) Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes. |
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Pulst SM et al. (1990) The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. |
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Stanescu R et al. (1990) Homozygous achondroplasia: morphologic and biochemical study of cartilage. |
30. |
Andersen PE et al. (1989) Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey. |
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Stoll C et al. (1989) Birth prevalence rates of skeletal dysplasias. |
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Edwards JH et al. (1988) Neurofibromatosis. |
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Francomano CA et al. (1988) Achondroplasia is not caused by mutation in the gene for type II collagen. |
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Eng CE et al. (1985) Nonrandom association of a type II procollagen genotype with achondroplasia. |
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Ogilvie D et al. (1986) Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. |
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Randolph LM et al. (1988) Achondroplasia with ankylosing spondylitis. |
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Hecht JT et al. (1988) Obesity in achondroplasia. |
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Philip N et al. (1988) Achondroplasia in sibs of normal parents. |
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Nelson FW et al. (1988) Neurological basis of respiratory complications in achondroplasia. |
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Pyeritz RE et al. (1987) Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. |
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Sommer A et al. (1987) Achondroplasia-hypochondroplasia complex. |
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Hecht JT et al. (1987) Mortality in achondroplasia. |
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Dodinval P et al. (1987) Genetic counselling in unexpected familial recurrence of achondroplasia. |
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Orioli IM et al. (1986) The birth prevalence rates for the skeletal dysplasias. |
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Thompson JN et al. (1986) Achondroplasia and parental age. |
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None (1985) Familial recurrence of achondroplasia. |
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Rimoin DL et al. (1970) Endochondral ossification in achondroplastic dwarfism. |
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Cohen ME et al. (1967) Neurological abnormalities in achondroplastic children. |
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Wallace DC et al. (1970) Severe achondroplasia: demonstration of probable heterogeneity within this clinical syndrome. |
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Murdoch JL et al. (1970) Achondroplasia--a genetic and statistical survey. |
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None (1968) [A new form of dysostosis with micromelia in 2 siblings]. |
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Maroteaux P et al. () Achondroplasia in man and animals. |
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None (1966) Renewal of spermatogonia in man. |
54. |
Langer LO et al. (1967) Achondroplasia. |
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Aterman K et al. (1983) Presumed homozygous achondroplasia. A review and report of a further case. |
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Reiser CA et al. (1984) Achondroplasia: unexpected familial recurrence. |
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None (1984) "Unstable premutation" in achondroplasia: penetrance vs phenotrance. |
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Fryns JP et al. (1983) Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. |
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Pauli RM et al. (1983) Homozygous achondroplasia with survival beyond infancy. |
60. |
Pauli RM et al. (1984) Apnea and sudden unexpected death in infants with achondroplasia. |
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Fremion AS et al. (1984) Apnea as the sole manifestation of cord compression in achondroplasia. |
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None (1984) Alternative explanations for recurrent achondroplasia in siblings of normal parents. |
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Elejalde BR et al. (1983) Prenatal diagnosis in two pregnancies of an achondroplastic woman. |
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Hall JG et al. (1982) Head growth in achondroplasia: use of ultrasound studies. |
65. |
Beighton P et al. (1981) Gibbal achondroplasia. |
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Morgan DF et al. (1980) Spinal neurological complications of achondroplasia. Results of surgical treatment. |
67. |
Pierre-Kahn A et al. (1980) Hydrocephalus and achondroplasia. A study of 25 observations. |
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Pauli RM et al. (1995) Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. |
69. |
Woods CG et al. (1994) Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia. |
70. |
Bellus GA et al. (1994) First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. |
71. |
Velinov M et al. (1994) The gene for achondroplasia maps to the telomeric region of chromosome 4p. |
72. |
Le Merrer M et al. (1994) A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. |
73. |
Francomano CA et al. (1994) Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. |
75. |
Beighton P et al. (1993) Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna. |
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Peters K et al. (1993) Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. |
77. |
Waters KA et al. (1995) Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. |
78. |
Weber G et al. (1996) Human growth hormone treatment in prepubertal children with achondroplasia. |
79. |
Hunter AG et al. (1996) Standard weight for height curves in achondroplasia. |
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Shohat M et al. (1996) Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. |
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None (1997) Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. |
82. |
None (1997) Molecular evolution--who is in the driver's seat? |
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Ellegren H et al. (1997) Male-driven evolution of DNA sequences in birds. |
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Hunter AG et al. (1998) Medical complications of achondroplasia: a multicentre patient review. |
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Tasker RC et al. (1998) Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. |
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Pauli RM et al. (1999) Jugular bulb dehiscence in achondroplasia. |
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Boor R et al. (1999) Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. |
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Mettler G et al. (2000) Recurrence risk for sibs of children with "sporadic" achondroplasia. |
89. |
Reynolds KK et al. (2001) Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. |
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Tiemann-Boege I et al. (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. |
91. |
Aviezer D et al. (2003) Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. |
92. |
Flynn MA et al. (2003) Double heterozygosity in bone growth disorders: four new observations and review. |
93. |
COHN S et al. (1956) Identical hydrocephalic achondroplastic twins; subsequent delivery of single sibling with same abnormalities. |
94. |
None (1957) Parental age in acondroplasia and mongolism. |
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DENNIS JP et al. (1961) Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. |
96. |
Stoll C et al. (2004) Do parents and grandparents of patients with achondroplasia have a higher cancer risk? |
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None (2006) Recent milestones in achondroplasia research. |
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None (2006) Dwarfs in ancient Egypt. |
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Bernal JE et al. (2006) Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador. |
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Hoover-Fong JE et al. (2007) Weight for age charts for children with achondroplasia. |
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Wynn J et al. (2007) Mortality in achondroplasia study: a 42-year follow-up. |
102. |
Waller DK et al. (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. |
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None (2008) Skeletal dysplasia in ancient Egypt. |
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Lorget F et al. (2012) Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. |
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OMIM.ORG article Omim 100800 |
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Orphanet article Orphanet ID 15 |
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Wikipedia article Wikipedia EN (Achondroplasia) |