-
1
-
-
69449090498
-
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
-
Attali R., Warwar N., Israel A., et al. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 2009, 18:3462-3469.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3462-3469
-
-
Attali, R.1
Warwar, N.2
Israel, A.3
-
2
-
-
0027999259
-
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9
-
Bamshad M., Watkins W.S., Zenger R.K., et al. A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. Am J Hum Genet 1994, 55:1153-1158.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1153-1158
-
-
Bamshad, M.1
Watkins, W.S.2
Zenger, R.K.3
-
3
-
-
0029807941
-
A revised and extended classification of distal arthrogryposes
-
Bamshad M., Jorde L.B., Carey J.C. A revised and extended classification of distal arthrogryposes. Am J Med Genet 1996, 65:277-281.
-
(1996)
Am J Med Genet
, vol.65
, pp. 277-281
-
-
Bamshad, M.1
Jorde, L.B.2
Carey, J.C.3
-
4
-
-
0022550695
-
Arthrogryposis multiplex congenita: spectrum of pathologic changes
-
Banker B.Q. Arthrogryposis multiplex congenita: spectrum of pathologic changes. Hum Pathol 1986, 17:656-672.
-
(1986)
Hum Pathol
, vol.17
, pp. 656-672
-
-
Banker, B.Q.1
-
5
-
-
20444368373
-
The distal arthrogryposes: a new classification of peripheral contractures
-
Beals R.K. The distal arthrogryposes: a new classification of peripheral contractures. Clin Orthop Relat Res. 2005, 435:203-210.
-
(2005)
Clin Orthop Relat Res.
, vol.435
, pp. 203-210
-
-
Beals, R.K.1
-
6
-
-
34250803955
-
Arthrogryposis multiplex congenita (amyoplasia). An orthopaedic perspective
-
Bevan W.P., Hall J.G., Bamshad M., et al. Arthrogryposis multiplex congenita (amyoplasia). An orthopaedic perspective. J Pediatr Orthop 2007, 27:594-600.
-
(2007)
J Pediatr Orthop
, vol.27
, pp. 594-600
-
-
Bevan, W.P.1
Hall, J.G.2
Bamshad, M.3
-
7
-
-
9544255675
-
Survival motor neuron gene deletion in the arthrogryposis multplex congenita-spinal muscular atrophy association
-
Burglen L., Amiel J., Viollet L., et al. Survival motor neuron gene deletion in the arthrogryposis multplex congenita-spinal muscular atrophy association. J Clin Invest 1996, 98:1130-1132.
-
(1996)
J Clin Invest
, vol.98
, pp. 1130-1132
-
-
Burglen, L.1
Amiel, J.2
Viollet, L.3
-
8
-
-
51449105398
-
A c.1019A>C mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia
-
Baynam G., Smith N., Goldblatt J. A c.1019A>C mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. Am J Med Genet A 2008, 146A:2301-2303.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2301-2303
-
-
Baynam, G.1
Smith, N.2
Goldblatt, J.3
-
9
-
-
0033543480
-
Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis
-
Cox P.M., Brueton L.A., Murphy K.W., et al. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am J Med Genet 1999, 86:187-193.
-
(1999)
Am J Med Genet
, vol.86
, pp. 187-193
-
-
Cox, P.M.1
Brueton, L.A.2
Murphy, K.W.3
-
10
-
-
0036165852
-
Multiple congenital contractures: birth prevalence, etiology and outcome
-
Darin N., Kimber E., Kroksmark A.K., et al. Multiple congenital contractures: birth prevalence, etiology and outcome. J Pediatr 2002, 140:61-67.
-
(2002)
J Pediatr
, vol.140
, pp. 61-67
-
-
Darin, N.1
Kimber, E.2
Kroksmark, A.K.3
-
12
-
-
0031757685
-
Arthrogryposis multiplex congenita
-
Gordon N. Arthrogryposis multiplex congenita. Brain Dev 1998, 20:507-511.
-
(1998)
Brain Dev
, vol.20
, pp. 507-511
-
-
Gordon, N.1
-
13
-
-
0023185942
-
The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions
-
Hageman G., Willemse J., van Ketel B.A., et al. The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions. Neuropediatrics 1987, 18:22-33.
-
(1987)
Neuropediatrics
, vol.18
, pp. 22-33
-
-
Hageman, G.1
Willemse, J.2
van Ketel, B.A.3
-
14
-
-
0021948713
-
Genetic aspects of arthrogryposis
-
Hall J.G. Genetic aspects of arthrogryposis. Clin Ortho Relat Res 1985, 194:44-53.
-
(1985)
Clin Ortho Relat Res
, vol.194
, pp. 44-53
-
-
Hall, J.G.1
-
15
-
-
0030930014
-
Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach and general aspects
-
Hall J.G. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach and general aspects. J Pediatr Orthop B 1997, 6:159-166.
-
(1997)
J Pediatr Orthop B
, vol.6
, pp. 159-166
-
-
Hall, J.G.1
-
16
-
-
80052181550
-
Arthrogryposis
-
Wiley-Liss, New Jersey, S.B. Cassidy, J.E. Allanson (Eds.)
-
Hall J.G. Arthrogryposis. Management of Genetic Syndromes 2005, 63-75. Wiley-Liss, New Jersey. 2nd edn. S.B. Cassidy, J.E. Allanson (Eds.).
-
(2005)
Management of Genetic Syndromes
, pp. 63-75
-
-
Hall, J.G.1
-
17
-
-
34250853132
-
Arthrogryposis (multiple congenital contractures)
-
Churchill Livingstone, Philadelphia, R.L. Rimion, J.M. Conner, R.E. Pyeritz (Eds.)
-
Hall J.G. Arthrogryposis (multiple congenital contractures). Emery and Rimion's Principles and Practice of Medical Genetics 2007, Vol. 168:3785-3856. Churchill Livingstone, Philadelphia. 5th edn. R.L. Rimion, J.M. Conner, R.E. Pyeritz (Eds.).
-
(2007)
Emery and Rimion's Principles and Practice of Medical Genetics
, vol.168
, pp. 3785-3856
-
-
Hall, J.G.1
-
18
-
-
68949132760
-
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited
-
Hall J.G. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol 2009, 85:677-694.
-
(2009)
Birth Defects Res A Clin Mol Teratol
, vol.85
, pp. 677-694
-
-
Hall, J.G.1
-
19
-
-
0345704347
-
Arthrogryposis
-
Butterworth-Heinemann Medical, Boston, H. Jones, D.C. De Vivo, B.T. Darris (Eds.)
-
Hall J.G., Vincent A. Arthrogryposis. Neuromuscular Diseases of Infancy, Childhood, Adolescence - A Clinician's Approach 2003, 123-141. Butterworth-Heinemann Medical, Boston. H. Jones, D.C. De Vivo, B.T. Darris (Eds.).
-
(2003)
Neuromuscular Diseases of Infancy, Childhood, Adolescence - A Clinician's Approach
, pp. 123-141
-
-
Hall, J.G.1
Vincent, A.2
-
20
-
-
0020041341
-
The distal arthrogryposis: delineation of new entities: review and nosologic discussion
-
Hall J.G., Reed S.D., Greene G. The distal arthrogryposis: delineation of new entities: review and nosologic discussion. Am J Med Genet 1982, 11:185-239.
-
(1982)
Am J Med Genet
, vol.11
, pp. 185-239
-
-
Hall, J.G.1
Reed, S.D.2
Greene, G.3
-
21
-
-
0020626273
-
Part I. Amyoplasia: a common, sporadic condition with congenital contractures
-
Hall J.G., Reed S.D., Driscoll E. Part I. Amyoplasia: a common, sporadic condition with congenital contractures. Am J Med Genet 1983, 15:571-590.
-
(1983)
Am J Med Genet
, vol.15
, pp. 571-590
-
-
Hall, J.G.1
Reed, S.D.2
Driscoll, E.3
-
22
-
-
0002253401
-
Analysis of Pena Shokeir phenotype
-
Hall J.G. Analysis of Pena Shokeir phenotype. Am J Med Genet 1986, 25:99-117.
-
(1986)
Am J Med Genet
, vol.25
, pp. 99-117
-
-
Hall, J.G.1
-
24
-
-
0021915345
-
A lethal autosomal recessive syndrome of multiple congenital contractures
-
Herva R., Leisti J., Kirkinen P., et al. A lethal autosomal recessive syndrome of multiple congenital contractures. Am J Med Genet 1985, 20:431-439.
-
(1985)
Am J Med Genet
, vol.20
, pp. 431-439
-
-
Herva, R.1
Leisti, J.2
Kirkinen, P.3
-
25
-
-
0023855138
-
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases
-
Herva R., Conradi N.G., Kalimo H., et al. A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. Am J Med Genet 1988, 29:67-76.
-
(1988)
Am J Med Genet
, vol.29
, pp. 67-76
-
-
Herva, R.1
Conradi, N.G.2
Kalimo, H.3
-
26
-
-
0345095272
-
Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita
-
Kang P.B., Lidov H.G., David W.S., et al. Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Ann Neurol 2003, 54:790-795.
-
(2003)
Ann Neurol
, vol.54
, pp. 790-795
-
-
Kang, P.B.1
Lidov, H.G.2
David, W.S.3
-
27
-
-
84859251280
-
Genetics of neuromuscular disorders
-
Laing N. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci 2012, 49:33-48.
-
(2012)
Crit Rev Clin Lab Sci
, vol.49
, pp. 33-48
-
-
Laing, N.1
-
28
-
-
1642633543
-
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals
-
Mäkelä-Bengs P., Järvinen N., Vuopala K., et al. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Am J Hum Genet 1998, 63:506-516.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 506-516
-
-
Mäkelä-Bengs, P.1
Järvinen, N.2
Vuopala, K.3
-
29
-
-
23944488015
-
IFSSH Report. Arthrogryposis multiplex congenita
-
Mennen U., Van Heest A., Ezaki M.B., et al. IFSSH Report. Arthrogryposis multiplex congenita. J Hand Surg [Br] 2005, 5:468-474.
-
(2005)
J Hand Surg [Br]
, vol.5
, pp. 468-474
-
-
Mennen, U.1
Van Heest, A.2
Ezaki, M.B.3
-
30
-
-
33746474596
-
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
-
Morgan N.V., Brueton L.A., Cox P., et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 2006, 79:390-395.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 390-395
-
-
Morgan, N.V.1
Brueton, L.A.2
Cox, P.3
-
31
-
-
34247540418
-
Genetics of arthrogryposis: linkage analysis approach
-
Narkis G., Landau D., Manor E., et al. Genetics of arthrogryposis: linkage analysis approach. Clin Orthop 2007, 456:30-35.
-
(2007)
Clin Orthop
, vol.456
, pp. 30-35
-
-
Narkis, G.1
Landau, D.2
Manor, E.3
-
32
-
-
84896689523
-
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I
-
Ochi H., Kobayashi E., Matsubara K., et al. Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I. Ultrasound Obstet Gynecol 2001, 18:253-257.
-
(2001)
Ultrasound Obstet Gynecol
, vol.18
, pp. 253-257
-
-
Ochi, H.1
Kobayashi, E.2
Matsubara, K.3
-
33
-
-
84876833241
-
-
Online Mendelian Inheritance in Man - OMIM, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 26 August 2009:
-
Online Mendelian Inheritance in Man® - OMIM® McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 26 August 2009:. http://www.ncbi.nlm.nih.gov/omim/.
-
-
-
-
34
-
-
33748290010
-
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland - an epidemiological study
-
Pakkasjarvi N., Ritvanen A., Herva R., et al. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland - an epidemiological study. Am J Med Genet 2006, 140:1834-1839.
-
(2006)
Am J Med Genet
, vol.140
, pp. 1834-1839
-
-
Pakkasjarvi, N.1
Ritvanen, A.2
Herva, R.3
-
35
-
-
0016164162
-
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition
-
Pena S.D.J., Shokeir M.H.K. Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. J Pediatr 1974, 85:373-375.
-
(1974)
J Pediatr
, vol.85
, pp. 373-375
-
-
Pena, S.D.J.1
Shokeir, M.H.K.2
-
36
-
-
84856013464
-
Fetal akinesia: review of the genetics of the neuromuscular causes
-
Ravenscroft G., Sollis E., Charles A.K., et al. Fetal akinesia: review of the genetics of the neuromuscular causes. J Med Genet 2011, 48:793-801.
-
(2011)
J Med Genet
, vol.48
, pp. 793-801
-
-
Ravenscroft, G.1
Sollis, E.2
Charles, A.K.3
-
38
-
-
0022544358
-
Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk
-
Reid C.O.M.V., Hall J.G., Riccardi V.M., et al. Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk. Am J Med Genet 1986, 24:701-710.
-
(1986)
Am J Med Genet
, vol.24
, pp. 701-710
-
-
Reid, C.O.M.V.1
Hall, J.G.2
Riccardi, V.M.3
-
39
-
-
0025816789
-
Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases
-
Quinn C.M., Wigglesworth J.S., Heckmatt J. Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases. Histopathology 1991, 19:155-162.
-
(1991)
Histopathology
, vol.19
, pp. 155-162
-
-
Quinn, C.M.1
Wigglesworth, J.S.2
Heckmatt, J.3
-
40
-
-
62149119930
-
Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging
-
Senocak E., Karli Oguz K., Haliloglu G., et al. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging. Pediatr Radiol 2009, 39:377-380.
-
(2009)
Pediatr Radiol
, vol.39
, pp. 377-380
-
-
Senocak, E.1
Karli Oguz, K.2
Haliloglu, G.3
-
41
-
-
75449088419
-
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature
-
Smigiel R., Jakubiak A., Esteves-Vieira V., et al. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet A 2010, 152A:447-452.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 447-452
-
-
Smigiel, R.1
Jakubiak, A.2
Esteves-Vieira, V.3
-
42
-
-
0008066666
-
Multiple congenital contractures. Public health considerations of arthrogryposis multiplex congenita
-
Swinyard C.A., Mayer V. Multiple congenital contractures. Public health considerations of arthrogryposis multiplex congenita. JAMA 1963, 183:23-27.
-
(1963)
JAMA
, vol.183
, pp. 23-27
-
-
Swinyard, C.A.1
Mayer, V.2
-
43
-
-
0021905502
-
The etiology of arthrogryposis
-
Swinyard C.A., Bleck E.E. The etiology of arthrogryposis. Clin Orthop 1985, 194:15-29.
-
(1985)
Clin Orthop
, vol.194
, pp. 15-29
-
-
Swinyard, C.A.1
Bleck, E.E.2
-
45
-
-
38749153268
-
Mutation analysis of CHRNA1, CHRNB1, CHRND and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients
-
Vogt J., Harrison B.J., Spearman H., et al. Mutation analysis of CHRNA1, CHRNB1, CHRND and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet 2008, 82:222-227.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 222-227
-
-
Vogt, J.1
Harrison, B.J.2
Spearman, H.3
-
46
-
-
0030345840
-
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome
-
Vuopala K., Herva R., Pedrosa-Domellöf F., et al. Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. Birth Defects Orig Artic Ser 1996, 30:369-378.
-
(1996)
Birth Defects Orig Artic Ser
, vol.30
, pp. 369-378
-
-
Vuopala, K.1
Herva, R.2
Pedrosa-Domellöf, F.3
-
47
-
-
0037110998
-
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses
-
Witters I., Moerman P., Fryns J.P. Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. Am J Med Genet 2002, 113:23-28.
-
(2002)
Am J Med Genet
, vol.113
, pp. 23-28
-
-
Witters, I.1
Moerman, P.2
Fryns, J.P.3
|