-
1
-
-
33845971924
-
Nosology and classification of genetic skeletal disorders: 2006 revision
-
Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007;143:1-18.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1-18
-
-
Superti-Furga, A.1
Unger, S.2
-
3
-
-
0042888668
-
Genetic disorders of the skeleton: A developmental approach
-
Kornak U, Mundlos S. Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet 2003;73:447-474.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 447-474
-
-
Kornak, U.1
Mundlos, S.2
-
6
-
-
34247596444
-
Physiological death of hypertrophic chondrocytes
-
Ahmed YA, Tatarczuch L, Pagel CN, Davies HM, Mirams M, Mackie EJ. Physiological death of hypertrophic chondrocytes. Osteoarthritis Cartilage 2007;15:575-586.
-
(2007)
Osteoarthritis Cartilage
, vol.15
, pp. 575-586
-
-
Ahmed, Y.A.1
Tatarczuch, L.2
Pagel, C.N.3
Davies, H.M.4
Mirams, M.5
MacKie, E.J.6
-
7
-
-
35748954326
-
Endochondral ossification: How cartilage is converted into bone in the developing skeleton
-
Mackie EJ, Ahmed YA, Tatarczuch L, Chen KS, Mirams M. Endochondral ossification: how cartilage is converted into bone in the developing skeleton. Int J Biochem Cell Biol 2008;40:46-62.
-
(2008)
Int J Biochem Cell Biol
, vol.40
, pp. 46-62
-
-
MacKie, E.J.1
Ahmed, Y.A.2
Tatarczuch, L.3
Chen, K.S.4
Mirams, M.5
-
8
-
-
67650281205
-
Skeletal morphogenesis during embryonic development
-
Yang Y. Skeletal morphogenesis during embryonic development. Crit Rev Eukaryot Gene Expr 2009;19:197-218.
-
(2009)
Crit Rev Eukaryot Gene Expr
, vol.19
, pp. 197-218
-
-
Yang, Y.1
-
10
-
-
4143052325
-
Conserved molecular program regulating cranial and appendicular skeletogenesis
-
Eames BF, Helms JA. Conserved molecular program regulating cranial and appendicular skeletogenesis. Dev Dyn 2004;231:4-13.
-
(2004)
Dev Dyn
, vol.231
, pp. 4-13
-
-
Eames, B.F.1
Helms, J.A.2
-
12
-
-
24744459687
-
Cellular and molecular interactions regulating skeletogenesis
-
Colnot C. Cellular and molecular interactions regulating skeletogenesis. J Cell Biochem 2005;95:688-697.
-
(2005)
J Cell Biochem
, vol.95
, pp. 688-697
-
-
Colnot, C.1
-
13
-
-
0030955414
-
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
-
Kuivaniemi H, Tromp G, Prockop DJ. Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 1997;9:300-315.
-
(1997)
Hum Mutat
, vol.9
, pp. 300-315
-
-
Kuivaniemi, H.1
Tromp, G.2
Prockop, D.J.3
-
14
-
-
5444243560
-
Collagens and cartilage matrix homeostasis
-
Eyre DR. Collagens and cartilage matrix homeostasis. Clin Orthop Relat Res 2004;(427 suppl):S118-S122.
-
(2004)
Clin Orthop Relat Res
, Issue.427 SUPPL.
-
-
Eyre, D.R.1
-
15
-
-
0035896588
-
Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease
-
Chan D, Ho MS, Cheah KS. Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease. J Biol Chem 2001;276:7992-7997.
-
(2001)
J Biol Chem
, vol.276
, pp. 7992-7997
-
-
Chan, D.1
Ho, M.S.2
Cheah, K.S.3
-
16
-
-
0029932410
-
Molecular defects in the chondrodysplasias
-
Rimoin DL. Molecular defects in the chondrodysplasias. Am J Med Genet 1996;63:106-110.
-
(1996)
Am J Med Genet
, vol.63
, pp. 106-110
-
-
Rimoin, D.L.1
-
17
-
-
0036165181
-
Molecular-pathogenetic classification of genetic disorders of the skeleton
-
Superti-Furga A, Bonafe L, Rimoin DL. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 2001;106: 282-293.
-
(2001)
Am J Med Genet
, vol.106
, pp. 282-293
-
-
Superti-Furga, A.1
Bonafe, L.2
Rimoin, D.L.3
-
18
-
-
0027016289
-
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type i collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease
-
Edwards MJ, Wenstrup RJ, Byers PH, Cohn DH. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. Hum Mutat 1992;1:47-54.
-
(1992)
Hum Mutat
, vol.1
, pp. 47-54
-
-
Edwards, M.J.1
Wenstrup, R.J.2
Byers, P.H.3
Cohn, D.H.4
-
19
-
-
4344699068
-
Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype
-
Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. Am J Med Genet A 2004;130:88-91.
-
(2004)
Am J Med Genet A
, vol.130
, pp. 88-91
-
-
Stevenson, D.A.1
Brothman, A.R.2
Chen, Z.3
Bayrak-Toydemir, P.4
Longo, N.5
-
20
-
-
34248163494
-
Mandibu-lofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
-
Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST. Mandibu-lofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. Am J Med Genet A 2007;143A:1053-1059.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1053-1059
-
-
Stevenson, D.A.1
Bleyl, S.B.2
Maxwell, T.3
Brothman, A.R.4
South, S.T.5
-
21
-
-
0035935618
-
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
-
Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am J Med Genet 2001;104:140-146.
-
(2001)
Am J Med Genet
, vol.104
, pp. 140-146
-
-
Unger, S.1
Korkko, J.2
Krakow, D.3
Lachman, R.S.4
Rimoin, D.L.5
Cohn, D.H.6
-
22
-
-
0021012739
-
Homozygous achondroplasia with survival beyond infancy
-
Pauli RM, Conroy MM, Langer LO Jr, et al. Homozygous achondroplasia with survival beyond infancy. Am J Med Genet 1983;16:459-473.
-
(1983)
Am J Med Genet
, vol.16
, pp. 459-473
-
-
Pauli, R.M.1
Conroy, M.M.2
Langer Jr., L.O.3
-
23
-
-
0031819322
-
Medical complications of achondroplasia: A multicentre patient review
-
Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet 1998;35:705-712.
-
(1998)
J Med Genet
, vol.35
, pp. 705-712
-
-
Hunter, A.G.1
Bankier, A.2
Rogers, J.G.3
Sillence, D.4
Scott Jr., C.I.5
-
24
-
-
0017041255
-
Chondrodysplasia punctata-23 cases of a mild and relatively common variety
-
Sheffield LJ, Danks DM, Mayne V, Hutchinson AL. Chondrodysplasia punctata-23 cases of a mild and relatively common variety. J Pediatr 1976;89:916-923.
-
(1976)
J Pediatr
, vol.89
, pp. 916-923
-
-
Sheffield, L.J.1
Danks, D.M.2
Mayne, V.3
Hutchinson, A.L.4
-
26
-
-
33846611949
-
Genetics of congenital heart diseases in syndromic and non-syndromic patients: New advances and clinical implications
-
Piacentini G, Digilio MC, Sarkozy A, Placidi S, Dallapiccola B, Marino B. Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications. J Cardiovasc Med (Hag-erstown) 2007;8:7-11.
-
(2007)
J Cardiovasc Med (Hag-erstown)
, vol.8
, pp. 7-11
-
-
Piacentini, G.1
Digilio, M.C.2
Sarkozy, A.3
Placidi, S.4
Dallapiccola, B.5
Marino, B.6
-
27
-
-
0036279968
-
Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk
-
Chen CP, Chang TY, Tzen CY, Lin CJ, Wang W. Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk. Ultrasound Obstet Gynecol 2002;19:629-631.
-
(2002)
Ultrasound Obstet Gynecol
, vol.19
, pp. 629-631
-
-
Chen, C.P.1
Chang, T.Y.2
Tzen, C.Y.3
Lin, C.J.4
Wang, W.5
-
28
-
-
0020505241
-
Cardiovascular manifestations in the Larsen syndrome
-
Kiel EA, Frias JL, Victorica BE. Cardiovascular manifestations in the Larsen syndrome. Pediatrics 1983;71:942-946.
-
(1983)
Pediatrics
, vol.71
, pp. 942-946
-
-
Kiel, E.A.1
Frias, J.L.2
Victorica, B.E.3
-
29
-
-
70350690742
-
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia
-
Bacchetta J, Ranchin B, Brunet AS, et al. Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. Pediatr Nephrol 2009;24:2449-2453
-
(2009)
Pediatr Nephrol
, vol.24
, pp. 2449-2453
-
-
Bacchetta, J.1
Ranchin, B.2
Brunet, A.S.3
-
30
-
-
38549100554
-
Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome
-
Khan S, Hinks J, Shorto J, Schwarz MJ, Sewell WA. Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome. Clin Exp Immunol 2008;151: 448-454.
-
(2008)
Clin Exp Immunol
, vol.151
, pp. 448-454
-
-
Khan, S.1
Hinks, J.2
Shorto, J.3
Schwarz, M.J.4
Sewell, W.A.5
-
31
-
-
0027475224
-
Otopalatodigital syndrome type II associated with omphalocele: Report of three cases
-
Young K, Barth CK, Moore C, Weaver DD. Otopalatodigital syndrome type II associated with omphalocele: report of three cases. Am J Med Genet 1993;45:481-487.
-
(1993)
Am J Med Genet
, vol.45
, pp. 481-487
-
-
Young, K.1
Barth, C.K.2
Moore, C.3
Weaver, D.D.4
-
32
-
-
0026729852
-
Lethal short limb dwarfism with dysmorphic face omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?
-
Canki-Klain N, Stanescu V, Stanescu R, Sinkovec J, Debevec M, Maro-teaux P. Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? Ann Genet 1992;35:129-133.
-
(1992)
Ann Genet
, vol.35
, pp. 129-133
-
-
Canki-Klain, N.1
Stanescu, V.2
Stanescu, R.3
Sinkovec, J.4
Debevec, M.5
Maro-Teaux, P.6
-
33
-
-
0035141430
-
"Duplicate calcaneus": A rare developmental defect observed in several skeletal dysplasias
-
Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS. "Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias. Pediatr Radiol 2001;31:38-42.
-
(2001)
Pediatr Radiol
, vol.31
, pp. 38-42
-
-
Cormier-Daire, V.1
Savarirayan, R.2
Unger, S.3
Rimoin, D.L.4
Lachman, R.S.5
-
34
-
-
0016422312
-
The chondrodystrophies
-
Rimoin DL. The chondrodystrophies. Adv Hum Genet 1975;5:1-118.
-
(1975)
Adv Hum Genet
, vol.5
, pp. 1-118
-
-
Rimoin, D.L.1
-
36
-
-
0019345458
-
Chondro-osseous morphology and biochemistry in the skeletal dysplasias
-
Rimoin DL, Sillence DO. Chondro-osseous morphology and biochemistry in the skeletal dysplasias. Birth Defects Orig Artic Ser 1981;17:249-265.
-
(1981)
Birth Defects Orig Artic ser
, vol.17
, pp. 249-265
-
-
Rimoin, D.L.1
Sillence, D.O.2
-
37
-
-
0018078886
-
Histochemical characterization of the endochon-dral growth plate: A new approach to the study of the chondrodystrophies
-
Horton WA, Rimoin DL. Histochemical characterization of the endochon-dral growth plate: a new approach to the study of the chondrodystrophies. Birth Defects Orig Artic Ser 1978;14:81-93.
-
(1978)
Birth Defects Orig Artic ser
, vol.14
, pp. 81-93
-
-
Horton, W.A.1
Rimoin, D.L.2
-
38
-
-
0023790661
-
Obesity in achondroplasia
-
Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Obesity in achondroplasia. Am J Med Genet 1988;31:597-602.
-
(1988)
Am J Med Genet
, vol.31
, pp. 597-602
-
-
Hecht, J.T.1
Hood, O.J.2
Schwartz, R.J.3
Hennessey, J.C.4
Bernhardt, B.A.5
Horton, W.A.6
-
39
-
-
49449091118
-
Age-appropriate body mass index in children with achondroplasia: Interpretation in relation to indexes of height
-
Hoover-Fong JE, Schulze KJ, McGready J, Barnes H, Scott CI. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. Am J Clin Nutr 2008;88:364-371.
-
(2008)
Am J Clin Nutr
, vol.88
, pp. 364-371
-
-
Hoover-Fong, J.E.1
Schulze, K.J.2
McGready, J.3
Barnes, H.4
Scott, C.I.5
-
40
-
-
34848866932
-
Weight for age charts for children with achondroplasia
-
Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. Weight for age charts for children with achondroplasia. Am J Med Genet A 2007;143A: 2227-2235.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2227-2235
-
-
Hoover-Fong, J.E.1
McGready, J.2
Schulze, K.J.3
Barnes, H.4
Scott, C.I.5
-
43
-
-
0023886013
-
Neurological basis of respiratory complications in achondroplasia
-
Nelson FW, Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner M. Neurological basis of respiratory complications in achondroplasia. Ann Neurol 1988;24:89-93.
-
(1988)
Ann Neurol
, vol.24
, pp. 89-93
-
-
Nelson, F.W.1
Hecht, J.T.2
Horton, W.A.3
Butler, I.J.4
Goldie, W.D.5
Miner, M.6
-
45
-
-
38449109310
-
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases
-
Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg 2007;107(6 suppl):504-507.
-
(2007)
J Neurosurg
, vol.107
, Issue.6 SUPPL.
, pp. 504-507
-
-
Danielpour, M.1
Wilcox, W.R.2
Alanay, Y.3
Pressman, B.D.4
Rimoin, D.L.5
-
46
-
-
0021362896
-
Apnea and sudden unexpected death in infants with achondroplasia
-
Pauli RM, Scott CI, Wassman ER Jr, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 1984;104:342-348.
-
(1984)
J Pediatr
, vol.104
, pp. 342-348
-
-
Pauli, R.M.1
Scott, C.I.2
Wassman Jr., E.R.3
-
47
-
-
0029038412
-
Surgical intervention in achondroplasia
-
Pauli RM. Surgical intervention in achondroplasia. Am J Hum Genet 1995;56:1501-1502.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1501-1502
-
-
Pauli, R.M.1
-
48
-
-
0028957869
-
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondro-plasia
-
Pauli RM, Horton VK, Glinski LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondro-plasia. Am J Hum Genet 1995;56:732-744.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 732-744
-
-
Pauli, R.M.1
Horton, V.K.2
Glinski, L.P.3
Reiser, C.A.4
-
49
-
-
0033978744
-
The neurological complications of achondroplasia
-
Gordon N. The neurological complications of achondroplasia. Brain Dev 2000;22:3-7.
-
(2000)
Brain Dev
, vol.22
, pp. 3-7
-
-
Gordon, N.1
-
50
-
-
33644620626
-
Health supervision for children with achondroplasia
-
Trotter TL, Hall JG. Health supervision for children with achondroplasia. Pediatrics 2005;116:771-783.
-
(2005)
Pediatrics
, vol.116
, pp. 771-783
-
-
Trotter, T.L.1
Hall, J.G.2
-
51
-
-
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 2001;14:17-26.
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, pp. 17-26
-
-
Kanaka-Gantenbein, C.1
-
52
-
-
0030704690
-
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia
-
Yasui N, Kawabata H, Kojimoto H, et al. Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. Clin Orthop Relat Res 1997;344:298-306.
-
(1997)
Clin Orthop Relat Res
, vol.344
, pp. 298-306
-
-
Yasui, N.1
Kawabata, H.2
Kojimoto, H.3
-
53
-
-
72249106946
-
Femoral lengthening in achondroplasia: Magnitude of lengthening in relation to patterns of callus, stiffness of adjacent joints and fracture
-
Venkatesh KP, Modi HN, Devmurari K, Yoon JY, Anupama BR, Song HR. Femoral lengthening in achondroplasia: magnitude of lengthening in relation to patterns of callus, stiffness of adjacent joints and fracture. J Bone Joint Surg Br 2009;91:1612-1617.
-
(2009)
J Bone Joint Surg Br
, vol.91
, pp. 1612-1617
-
-
Venkatesh, K.P.1
Modi, H.N.2
Devmurari, K.3
Yoon, J.Y.4
Anupama, B.R.5
Song, H.R.6
-
54
-
-
0141457239
-
Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature
-
Hill V, Sahhar M, Aitken M, Savarirayan R, Metcalfe S. Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature. Am J Med Genet A 2003;122A:100-107.
-
(2003)
Am J Med Genet A
, vol.122 A
, pp. 100-107
-
-
Hill, V.1
Sahhar, M.2
Aitken, M.3
Savarirayan, R.4
Metcalfe, S.5
-
55
-
-
0345384281
-
Heritable disorders of connective tissue. V. Osteogenesis imperfecta
-
McKusick VA. Heritable disorders of connective tissue. V. Osteogenesis imperfecta. J Chronic Dis 1956;3:180-202.
-
(1956)
J Chronic Dis
, vol.3
, pp. 180-202
-
-
McKusick, V.A.1
-
56
-
-
35348917401
-
Osteogenesis imperfecta: Epidemiology and patho-physiology
-
Martin E, Shapiro JR. Osteogenesis imperfecta: epidemiology and patho-physiology. Curr Osteoporos Rep 2007;5:91-97.
-
(2007)
Curr Osteoporos Rep
, vol.5
, pp. 91-97
-
-
Martin, E.1
Shapiro, J.R.2
-
57
-
-
0024195591
-
Osteogenesis imperfecta nosology and genetics
-
Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 1988;543:1-15.
-
(1988)
Ann N y Acad Sci
, vol.543
, pp. 1-15
-
-
Sillence, D.O.1
-
59
-
-
0021904667
-
Osteogenesis imperfecta clinical features, hearing loss and stapedectomy.Biochemical, osteodensitometric, corneometric and histo-logical aspects in comparison with otosclerosis
-
Pedersen U. Osteogenesis imperfecta clinical features, hearing loss and stapedectomy. Biochemical, osteodensitometric, corneometric and histo-logical aspects in comparison with otosclerosis. Acta Otolaryngol Suppl 1985;415:1-36.
-
(1985)
Acta Otolaryngol Suppl
, vol.415
, pp. 1-36
-
-
Pedersen, U.1
-
61
-
-
0028359009
-
Bone mineral content and density in healthy subjects and in osteogenesis imperfecta
-
Davie MW, Haddaway MJ. Bone mineral content and density in healthy subjects and in osteogenesis imperfecta. Arch Dis Child 1994;70:331-334.
-
(1994)
Arch Dis Child
, vol.70
, pp. 331-334
-
-
Davie, M.W.1
Haddaway, M.J.2
-
62
-
-
0027771906
-
Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta
-
Charnas LR, Marini JC. Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta. Neurology 1993;43:2603-2608.
-
(1993)
Neurology
, vol.43
, pp. 2603-2608
-
-
Charnas, L.R.1
Marini, J.C.2
-
63
-
-
16644387773
-
Neurologic profile in osteogenesis imperfecta
-
Charnas LR, Marini JC. Neurologic profile in osteogenesis imperfecta. Connect Tissue Res 1995;31:S23-S26.
-
(1995)
Connect Tissue Res
, vol.31
-
-
Charnas, L.R.1
Marini, J.C.2
-
64
-
-
33847227672
-
Consortium for osteogenesis imperfecta mutations in the helical domain of type i collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
-
Marini JC, Forlino A, Cabral WA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007;28:209-221.
-
(2007)
Hum Mutat
, vol.28
, pp. 209-221
-
-
Marini, J.C.1
Forlino, A.2
Cabral, W.A.3
-
65
-
-
55849106161
-
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
-
Baldridge D, Schwarze U, Morello R, et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 2008;29:1435-1442.
-
(2008)
Hum Mutat
, vol.29
, pp. 1435-1442
-
-
Baldridge, D.1
Schwarze, U.2
Morello, R.3
-
66
-
-
33847321022
-
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
-
Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007;39:359-365.
-
(2007)
Nat Genet
, vol.39
, pp. 359-365
-
-
Cabral, W.A.1
Chang, W.2
Barnes, A.M.3
-
67
-
-
33845866114
-
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
-
Barnes AM, Chang W, Morello R, et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006; 355:2757-2764.
-
(2006)
N Engl J Med
, vol.355
, pp. 2757-2764
-
-
Barnes, A.M.1
Chang, W.2
Morello, R.3
-
68
-
-
0033848677
-
Type v osteogenesis imperfecta: A new form of brittle bone disease
-
Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000;15:1650-1658.
-
(2000)
J Bone Miner Res
, vol.15
, pp. 1650-1658
-
-
Glorieux, F.H.1
Rauch, F.2
Plotkin, H.3
-
69
-
-
0036133709
-
Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect
-
Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002;17:30-38. (Pubitemid 33150994)
-
(2002)
Journal of Bone and Mineral Research
, vol.17
, Issue.1
, pp. 30-38
-
-
Glorieux, F.H.1
Ward, L.M.2
Rauch, F.3
Lalic, L.4
Roughley, P.J.5
Travers, R.6
-
70
-
-
33846592746
-
Osteogenesis imperfecta type VI in childhood and adolescence: Effects of cyclical intravenous pamidr-onate treatment
-
Land C, Rauch F, Travers R, Glorieux FH. Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidr-onate treatment. Bone 2007;40:638-644.
-
(2007)
Bone
, vol.40
, pp. 638-644
-
-
Land, C.1
Rauch, F.2
Travers, R.3
Glorieux, F.H.4
-
71
-
-
33947168658
-
Experience with bisphosphonates in osteogenesis imperfecta
-
Glorieux FH. Experience with bisphosphonates in osteogenesis imperfecta. Pediatrics 2007;119(suppl 2):S163-S165.
-
(2007)
Pediatrics
, vol.119
, Issue.SUPPL. 2
-
-
Glorieux, F.H.1
-
72
-
-
0034997831
-
Efficacy of low dose schedule pamidronate infusion in children with osteogenesis imperfecta
-
Gonzalez E, Pavia C, Ros J, Villaronga M, Valls C, Escola J. Efficacy of low dose schedule pamidronate infusion in children with osteogenesis imperfecta. JPediatr Endocrinol Metab 2001;14:529-533.
-
(2001)
JPediatr Endocrinol Metab
, vol.14
, pp. 529-533
-
-
Gonzalez, E.1
Pavia, C.2
Ros, J.3
Villaronga, M.4
Valls, C.5
Escola, J.6
-
73
-
-
0027502197
-
Rehabilitation approaches to children with osteogenesis imperfecta: A ten-year experience
-
Binder H, Conway A, Gerber LH. Rehabilitation approaches to children with osteogenesis imperfecta: a ten-year experience. Arch Phys Med Re-habil 1993;74:386-390.
-
(1993)
Arch Phys Med Re-habil
, vol.74
, pp. 386-390
-
-
Binder, H.1
Conway, A.2
Gerber, L.H.3
-
74
-
-
0027518381
-
Comprehensive rehabilitation of the child with osteogenesis imperfecta
-
Binder H, Conway A, Hason S, et al. Comprehensive rehabilitation of the child with osteogenesis imperfecta. Am J Med Genet 1993;45:265-269.
-
(1993)
Am J Med Genet
, vol.45
, pp. 265-269
-
-
Binder, H.1
Conway, A.2
Hason, S.3
-
75
-
-
0022293662
-
Pattern recognition in bone dysplasias
-
Spranger J. Pattern recognition in bone dysplasias. Prog Clin Biol Res 1985;200:315-342.
-
(1985)
Prog Clin Biol Res
, vol.200
, pp. 315-342
-
-
Spranger, J.1
-
77
-
-
0033052269
-
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
-
Gong Y, Krakow D, Marcelino J, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet 1999;21: 302-304.
-
(1999)
Nat Genet
, vol.21
, pp. 302-304
-
-
Gong, Y.1
Krakow, D.2
Marcelino, J.3
-
78
-
-
33645465013
-
GDF5 is a second locus for multiple-synostosis syndrome
-
Dawson K, Seeman P, Sebald E, et al. GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet 2006;78:708-712.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 708-712
-
-
Dawson, K.1
Seeman, P.2
Sebald, E.3
-
79
-
-
0031779088
-
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
-
Wilcox WR, Tavormina PL, Krakow D, et al. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 1998;78:274-281.
-
(1998)
Am J Med Genet
, vol.78
, pp. 274-281
-
-
Wilcox, W.R.1
Tavormina, P.L.2
Krakow, D.3
-
80
-
-
0029032394
-
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hy-pochondroplasia
-
Bellus GA, McIntosh I, Smith EA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hy-pochondroplasia. Nat Genet 1995;10:357-359.
-
(1995)
Nat Genet
, vol.10
, pp. 357-359
-
-
Bellus, G.A.1
McIntosh, I.2
Smith, E.A.3
-
81
-
-
0029787411
-
Molecular genetic basis of the human chondrodysplasias
-
Horton WA. Molecular genetic basis of the human chondrodysplasias. Endocrinol Metab Clin North Am 1996;25:683-697.
-
(1996)
Endocrinol Metab Clin North Am
, vol.25
, pp. 683-697
-
-
Horton, W.A.1
-
83
-
-
0343183923
-
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
-
Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet 2000;92:95-100.
-
(2000)
Am J Med Genet
, vol.92
, pp. 95-100
-
-
Korkko, J.1
Cohn, D.H.2
Ala-Kokko, L.3
Krakow, D.4
Prockop, D.J.5
-
84
-
-
0024341253
-
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
-
Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 1989;244:978-980.
-
(1989)
Science
, vol.244
, pp. 978-980
-
-
Lee, B.1
Vissing, H.2
Ramirez, F.3
Rogers, D.4
Rimoin, D.5
-
85
-
-
22144481004
-
The phenotypic spectrum of COL2A1 mutations
-
Nishimura G, HagaN, KitohH, et al. The phenotypic spectrum of COL2A1 mutations. Hum Mutat 2005;26:36-43.
-
(2005)
Hum Mutat
, vol.26
, pp. 36-43
-
-
Nishimura, G.1
Kitohh, H.2
-
86
-
-
0032998256
-
Small deletions in the type II collagen triple helix produce kniest dysplasia
-
Wilkin DJ, Artz AS, South S, et al. Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet 1999;85:105-112.
-
(1999)
Am J Med Genet
, vol.85
, pp. 105-112
-
-
Wilkin, D.J.1
Artz, A.S.2
South, S.3
-
87
-
-
0027471786
-
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
-
Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet 1993;3:323-326.
-
(1993)
Nat Genet
, vol.3
, pp. 323-326
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
Mundlos, S.4
Spranger, J.5
Zabel, B.U.6
-
88
-
-
0029665141
-
A-2\G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred
-
Williams CJ, Ganguly A, Considine E, et al. A-2\G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 1996;63: 461-467.
-
(1996)
Am J Med Genet
, vol.63
, pp. 461-467
-
-
Williams, C.J.1
Ganguly, A.2
Considine, E.3
-
89
-
-
0033365199
-
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
-
Annunen S, Korkko J, Czarny M, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet 1999;65:974-983.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 974-983
-
-
Annunen, S.1
Korkko, J.2
Czarny, M.3
-
90
-
-
0031890446
-
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
-
Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr 1998;132:368-371.
-
(1998)
J Pediatr
, vol.132
, pp. 368-371
-
-
Sirko-Osadsa, D.A.1
Murray, M.A.2
Scott, J.A.3
Lavery, M.A.4
Warman, M.L.5
Robin, N.H.6
-
91
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
Vikkula M, Mariman EC, Lui VC, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995; 80:431-437.
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula, M.1
Mariman, E.C.2
Lui, V.C.3
-
92
-
-
0027282559
-
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
-
Warman ML, Abbott M, Apte SS, et al. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet 1993;5:79-82.
-
(1993)
Nat Genet
, vol.5
, pp. 79-82
-
-
Warman, M.L.1
Abbott, M.2
Apte, S.S.3
-
93
-
-
0033944792
-
Schmid type metaphyseal chondrodysplasia: A spondylometaphyseal dysplasia identical to the "Japanese" type
-
Savarirayan R, Cormier-Daire V, Lachman RS, Rimoin DL. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. Pediatr Radiol 2000;30:460-463.
-
(2000)
Type. Pediatr Radiol
, vol.30
, pp. 460-463
-
-
Savarirayan, R.1
Cormier-Daire, V.2
Lachman, R.S.3
Rimoin, D.L.4
-
94
-
-
23944438868
-
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondylo-epiphyseal dysplasia associated with severe, premature osteoarthritis
-
Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondylo-epiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet 2005;77:484-490.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 484-490
-
-
Gleghorn, L.1
Ramesar, R.2
Beighton, P.3
Wallis, G.4
-
95
-
-
58049198280
-
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
-
Tompson SW, Merriman B, Funari VA, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet 2009;84:72-79.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 72-79
-
-
Tompson, S.W.1
Merriman, B.2
Funari, V.A.3
-
96
-
-
17344374325
-
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
-
Briggs MD, Mortier GR, Cole WG, et al. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet 1998;62:311-319.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 311-319
-
-
Briggs, M.D.1
Mortier, G.R.2
Cole, W.G.3
-
97
-
-
0035178990
-
Thrombospondins: Multifunctional regulators of cell interactions
-
Adams JC. Thrombospondins: multifunctional regulators of cell interactions. Annu Rev Cell Dev Biol 2001;17:25-51.
-
(2001)
Annu Rev Cell Dev Biol
, vol.17
, pp. 25-51
-
-
Adams, J.C.1
-
98
-
-
0037219859
-
Review: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia
-
Chapman KL, Briggs MD, Mortier GR. Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. Pediatr Pathol Mol Med 2003;22:53-75.
-
(2003)
Pediatr Pathol Mol Med
, vol.22
, pp. 53-75
-
-
Chapman, K.L.1
Briggs, M.D.2
Mortier, G.R.3
-
99
-
-
18344383853
-
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
-
Arikawa-Hirasawa E, Le AH, Nishino I, et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002;70: 1368-1375.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1368-1375
-
-
Arikawa-Hirasawa, E.1
Le, A.H.2
Nishino, I.3
-
100
-
-
0035068499
-
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
-
Arikawa-Hirasawa E, Wilcox WR, Le AH, et al. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet 2001;27:431-434.
-
(2001)
Nat Genet
, vol.27
, pp. 431-434
-
-
Arikawa-Hirasawa, E.1
Wilcox, W.R.2
Le, A.H.3
-
101
-
-
0034597369
-
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, ky-phomelic dysplasia, and Burton disease
-
Spranger J, Hall BD, Hane B, Srivastava A, Stevenson RE. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, ky-phomelic dysplasia, and Burton disease. Am J Med Genet 2000;94:287-295.
-
(2000)
Am J Med Genet
, vol.94
, pp. 287-295
-
-
Spranger, J.1
Hall, B.D.2
Hane, B.3
Srivastava, A.4
Stevenson, R.E.5
-
102
-
-
0023257443
-
Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity
-
Aleck KA, Grix A, Clericuzio C, et al. Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity. Am J Med Genet 1987;27:295-312.
-
(1987)
Am J Med Genet
, vol.27
, pp. 295-312
-
-
Aleck, K.A.1
Grix, A.2
Clericuzio, C.3
-
103
-
-
49049083638
-
Interplay between TRP channels and the cytoskeleton in health and disease
-
Clark K, Middelbeek J, van Leeuwen FN. Interplay between TRP channels and the cytoskeleton in health and disease. Eur J Cell Biol 2008;87:631-640.
-
(2008)
Eur J Cell Biol
, vol.87
, pp. 631-640
-
-
Clark, K.1
Middelbeek, J.2
Van Leeuwen, F.N.3
-
104
-
-
61549126051
-
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dys-plasia, Kozlowski type and metatropic dysplasia
-
Krakow D, Vriens J, Camacho N, et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dys-plasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet 2009; 84:307-315.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 307-315
-
-
Krakow, D.1
Vriens, J.2
Camacho, N.3
-
105
-
-
48349103354
-
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
-
Rock MJ, Prenen J, Funari VA, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet 2008;40:999-1003.
-
(2008)
Nat Genet
, vol.40
, pp. 999-1003
-
-
Rock, M.J.1
Prenen, J.2
Funari, V.A.3
-
106
-
-
75749129360
-
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
-
Auer-Grumbach M, Olschewski A, Papic L, et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010;42:160-164.
-
(2010)
Nat Genet
, vol.42
, pp. 160-164
-
-
Auer-Grumbach, M.1
Olschewski, A.2
Papic, L.3
-
107
-
-
75749083221
-
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
-
Deng HX, Klein CJ, Yan J, et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010;42:165-169.
-
(2010)
Nat Genet
, vol.42
, pp. 165-169
-
-
Deng, H.X.1
Klein, C.J.2
Yan, J.3
-
108
-
-
75749139617
-
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
-
Landoure G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 2010;42:170-174.
-
(2010)
Nat Genet
, vol.42
, pp. 170-174
-
-
Landoure, G.1
Zdebik, A.A.2
Martinez, T.L.3
-
109
-
-
33745714429
-
Mutations in two regions of FLNB result in atelosteogenesis i and III
-
Farrington-Rock C, Firestein MH, Bicknell LS, et al. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat 2006;27: 705-710.
-
(2006)
Hum Mutat
, vol.27
, pp. 705-710
-
-
Farrington-Rock, C.1
Firestein, M.H.2
Bicknell, L.S.3
-
110
-
-
12144286665
-
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogen-esis
-
Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogen-esis. Nat Genet 2004;36:405-410.
-
(2004)
Nat Genet
, vol.36
, pp. 405-410
-
-
Krakow, D.1
Robertson, S.P.2
King, L.M.3
-
111
-
-
0344522713
-
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
-
Robertson SP, Twigg SR, Sutherland-Smith AJ, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 2003;33:487-491.
-
(2003)
Nat Genet
, vol.33
, pp. 487-491
-
-
Robertson, S.P.1
Twigg, S.R.2
Sutherland-Smith, A.J.3
-
112
-
-
14844344918
-
Molecular pathology of filamin A: Diverse phenotypes, many functions
-
Robertson SP. Molecular pathology of filamin A: diverse phenotypes, many functions. Clin Dysmorphol 2004;13:123-131.
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 123-131
-
-
Robertson, S.P.1
-
113
-
-
0036843239
-
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
-
Parvari R, Hershkovitz E, Grossman N, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002;32:448-452.
-
(2002)
Nat Genet
, vol.32
, pp. 448-452
-
-
Parvari, R.1
Hershkovitz, E.2
Grossman, N.3
-
114
-
-
33847252858
-
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
-
Bicknell LS, Farrington-Rock C, Shafeghati Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet 2007;44:89-98.
-
(2007)
J Med Genet
, vol.44
, pp. 89-98
-
-
Bicknell, L.S.1
Farrington-Rock, C.2
Shafeghati, Y.3
-
116
-
-
19444368524
-
Filamin A: Phenotypic diversity
-
Robertson SP. Filamin A: phenotypic diversity. Curr Opin Genet Dev 2005;15:301-307.
-
(2005)
Curr Opin Genet Dev
, vol.15
, pp. 301-307
-
-
Robertson, S.P.1
-
117
-
-
33744481542
-
Filamin a, periventricular nodular heterotopia, and West syndrome
-
Robertson SP. Filamin a, periventricular nodular heterotopia, and West syndrome. Epilepsia 2006;47:1082.
-
(2006)
Epilepsia
, vol.47
, pp. 1082
-
-
Robertson, S.P.1
-
118
-
-
33746617484
-
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity
-
Robertson SP, Jenkins ZA, Morgan T, et al. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A 2006; 140:1726-1736.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1726-1736
-
-
Robertson, S.P.1
Jenkins, Z.A.2
Morgan, T.3
-
119
-
-
0025128975
-
Frameshift mutation near the 3' end of the COL1A1 gene of type i collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type i
-
Willing MC, Cohn DH, Byers PH. Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. J Clin Invest 1990;85: 282-290.
-
(1990)
J Clin Invest
, vol.85
, pp. 282-290
-
-
Willing, M.C.1
Cohn, D.H.2
Byers, P.H.3
-
120
-
-
0023944520
-
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type i collagen secretion and produces perinatal lethal osteogenesis imperfecta
-
Willing MC, Cohn DH, Starman B, Holbrook KA, Greenberg CR, Byers PH. Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem 1988;263:8398-8404.
-
(1988)
J Biol Chem
, vol.263
, pp. 8398-8404
-
-
Willing, M.C.1
Cohn, D.H.2
Starman, B.3
Holbrook, K.A.4
Greenberg, C.R.5
Byers, P.H.6
-
121
-
-
0025061884
-
Brittle bones\fragile molecules: Disorders of collagen gene structure and expression
-
Byers PH. Brittle bones\fragile molecules: disorders of collagen gene structure and expression. Trends Genet 1990;6:293-300.
-
(1990)
Trends Genet
, vol.6
, pp. 293-300
-
-
Byers, P.H.1
-
123
-
-
70450242877
-
CRTAP mutations in lethal and severe osteogenesis imperfecta: The importance of combining biochemical and molecular genetic analysis
-
Van Dijk FS, Nesbitt IM, Nikkels PG, et al. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet 2009;17:1560-1569.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1560-1569
-
-
Van Dijk, F.S.1
Nesbitt, I.M.2
Nikkels, P.G.3
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