-
1
-
-
0029807941
-
A revised and extended classification of the distal arthrogryposes
-
Bamshad M, Jorde IB, Carey JC (1996) A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65:277-281.
-
(1996)
Am J Med Genet
, vol.65
, pp. 277-281
-
-
Bamshad, M.1
Jorde, I.B.2
Carey, J.C.3
-
2
-
-
33749068357
-
Dok-7 mutations underlie a neuromuscular junction synaptopathy
-
Beeson D, Higuchi 0, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Miiller JS, Lochmiiller H, Slater C, Vincent A, Yamanashi Y (2006) Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313:1975-1978.
-
(2006)
Science
, vol.313
, pp. 1975-1978
-
-
Beeson, D.1
Higuchi, O.2
Palace, J.3
Cossins, J.4
Spearman, H.5
Maxwell, S.6
Newsom-Davis, J.7
Burke, G.8
Fawcett, P.9
Motomura, M.10
Miiller, J.S.11
Lochmiiller, H.12
Slater, C.13
Vincent, A.14
Yamanashi, Y.15
-
3
-
-
10744220964
-
Rapsyn mutations in hereditary myasthenia: Distinct early- and late-onset phenotypes
-
Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D (2003) Rapsyn mutations in hereditary myasthenia: Distinct early- and late-onset phenotypes. Neurology 61:826-828.
-
(2003)
Neurology
, vol.61
, pp. 826-828
-
-
Burke, G.1
Cossins, J.2
Maxwell, S.3
Owens, G.4
Vincent, A.5
Robb, S.6
Nicolle, M.7
Hilton-Jones, D.8
Newsom-Davis, J.9
Palace, J.10
Beeson, D.11
-
4
-
-
0020662229
-
Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis
-
Clarren SK, Hall JG (1983) Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis. JNeurol Sci 58:89-102.
-
(1983)
JNeurol Sci
, vol.58
, pp. 89-102
-
-
Clarren, S.K.1
Hall, J.G.2
-
5
-
-
0036165852
-
Multiple congenital contractures: birth prevalence, etiology, and outcome
-
Darin N, Kimber E, Kroksmark AK, Tulinius M, (2000) Multiple congenital contractures: birth prevalence, etiology, and outcome. J Pediafr 140:61-67.
-
(2000)
J Pediafr
, vol.140
, pp. 61-67
-
-
Darin, N.1
Kimber, E.2
Kroksmark, A.K.3
Tulinius, M.4
-
6
-
-
0031830345
-
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
-
Darin N, Kyllerrnan M, Wahlstrom J, Martinsson T, Oldfors A (1998) Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol44: 242-248.
-
(1998)
Ann Neuro
, vol.144
, pp. 242-248
-
-
Darin, N.1
Kyllerrnan, M.2
Wahlstrom, J.3
Martinsson, T.4
Oldfors, A.5
-
7
-
-
18744401389
-
Current understanding of congenital myasthenic syndromes
-
Engel AG, Sine SM (2005) Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 5:308-321.
-
(2005)
Curr Opin Pharmacol
, vol.5
, pp. 308-321
-
-
Engel, A.G.1
Sine, S.M.2
-
8
-
-
0025153805
-
A retrospective study of pregnancy complications among 828 cases of arthrogryposis
-
Fahy MJ, Hall JG (1990) A retrospective study of pregnancy complications among 828 cases of arthrogryposis. Genet Counsel 1 :3-11.
-
(1990)
Genet Counsel
, vol.1
, pp. 3-11
-
-
Fahy, M.J.1
Hall, J.G.2
-
9
-
-
0023851666
-
A recessive form of congenital contractures and torticollis associated with malignant hyperthermia
-
Froster-Iskenius Waterson JR, Hall JG (1988) A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. J Med Genet 25:104-112.
-
(1988)
J Med Genet
, vol.25
, pp. 104-112
-
-
Froster-Iskenius Waterson, J.R.1
Hall, J.G.2
-
10
-
-
0034927859
-
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
-
Graham JM Jr, Ayane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NGJ (2001) Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 69:291-300.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 291-300
-
-
Graham, J.M.1
Ayane-Yeboa, K.2
Raams, A.3
Appeldoorn, E.4
Kleijer, W.J.5
Garritsen, V.H.6
Busch, D.7
Edersheim, T.G.8
Jaspers, N.G.J.9
-
11
-
-
0021948713
-
Genetic aspects of arthrogryposis
-
Hall JG (1985a) Genetic aspects of arthrogryposis. Clin Orthop Relat Res 184:44-53.
-
(1985)
Clin Orthop Relat Res
, vol.184
, pp. 44-53
-
-
Hall, J.G.1
-
12
-
-
0022333192
-
In utero movement and use of limbs are necessary for normal growth: A study of individuals with arthrogryposis
-
In: Endocrine Genetics and Genetics of Growth, Papadatos J, Bartsocas CS, eds New York: Alan R Liss Inc.
-
Hall JG (1 985b) In utero movement and use of limbs are necessary for normal growth: A study of individuals with arthrogryposis. In: Endocrine Genetics and Genetics of Growth, Papadatos J, Bartsocas CS, eds. New York: Alan R Liss Inc., pp. 155-162.
-
(1985)
, pp. 155-162
-
-
Hall, J.G.1
-
13
-
-
0002253401
-
Invited editorial comment: Analysis of Pena Shokeir phenotype
-
Hall JG (1986) Invited editorial comment: Analysis of Pena Shokeir phenotype. Am J Med Genet 25:99-117.
-
(1986)
Am J Med Genet
, vol.25
, pp. 99-117
-
-
Hall, J.G.1
-
14
-
-
0029918110
-
Arthrogryposis associated with unsuccessful attempts at termination of pregnancy
-
Hall JG (1 996) Arthrogryposis associated with unsuccessful attempts at termination of pregnancy. Am J Med Genet 63:293-300.
-
(1996)
Am J Med Genet
, vol.63
, pp. 293-300
-
-
Hall, J.G.1
-
15
-
-
4243884270
-
Overview of Arthrogryposis
-
In: Arthrogryposis: A Text Atlas, Staheli LT, Hall JG, Jaffe KM, Paholke DO, eds. Cambridge: Cambridge University Press
-
Hall JG ( 1998) Overview of Arthrogryposis. In: Arthrogryposis: A Text Atlas, Staheli LT, Hall JG, Jaffe KM, Paholke DO, eds. Cambridge: Cambridge University Press, pp. 1-25.
-
(1998)
, pp. 1-25
-
-
Hall, J.G.1
-
16
-
-
34250853132
-
Arthrogryposes (multiple congenital contractures)
-
In: Principles and Practice of Medical Genetics, Rimoin DL, Connor JM, Pyeritz RE, Korf BR,eds, Vol. 3, 5th ed. New York: Churchill Livingstone
-
Hall JG (2007) Arthrogryposes (multiple congenital contractures). In: Principles and Practice of Medical Genetics, Rimoin DL, Connor JM, Pyeritz RE, Korf BR,eds, Vol. 3, 5th ed. New York: Churchill Livingstone, pp. 3785-3856.
-
(2007)
, pp. 3785-3856
-
-
Hall, J.G.1
-
17
-
-
84886021648
-
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited
-
Hall JG (2009) Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol 25: 173-191.
-
(2009)
Birth Defects Res A Clin Mol Teratol
, vol.25
, pp. 173-191
-
-
Hall, J.G.1
-
18
-
-
0020035387
-
Teratogens associated with congenital contractures in humans and in animals
-
Hall JG, Reed SD (1982) Teratogens associated with congenital contractures in humans and in animals. Teratology 25: 173-191.
-
(1982)
Teratology
, vol.25
, pp. 173-191
-
-
Hall, J.G.1
Reed, S.D.2
-
19
-
-
0345704347
-
Arthrogryposis
-
In: Neuromuscular Diseases of Infancy, Childhood, Adolescence-A Clinician 's Approach, Jones H, De Vivo DC, Dams BT, eds. Boston: Butterworth-Heinemann Medical
-
Hall JG, Vincent A (2003) Arthrogryposis. In: Neuromuscular Diseases of Infancy, Childhood, Adolescence-A Clinician 's Approach, Jones H, De Vivo DC, Dams BT, eds. Boston: Butterworth-Heinemann Medical, pp. 123-141.
-
(2003)
, pp. 123-141
-
-
Hall, J.G.1
Vincent, A.2
-
20
-
-
0020041341
-
The distal arthrogryposes: Delineation of new entities-Review and nosologic discussion
-
Hall JG, Reed SD, Greene G ( I 982a) The distal arthrogryposes: Delineation of new entities-Review and nosologic discussion. Am J Med Genet 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
-
-
0020066298
-
Three distinct types of X-linked arthrogryposis seen in 6 families
-
Hall JG, Reed SD, Scott CI, Rogers JG, Jones KL, Camarano A (1 982b) Three distinct types of X-linked arthrogryposis seen in 6 families. Clin Genet 2153-97.
-
(1982)
Clin Genet
, vol.21
, pp. 53-97
-
-
Hall, J.G.1
Reed, S.D.2
Scott, C.I.3
Rogers, J.G.4
Jones, K.L.5
Camarano, A.6
-
22
-
-
0020626273
-
Part I. Amyoplasia: A common, sporadic condition with congenital contractures
-
Hall JG, Reed SD, Driscoll EP (1983) Part I. Amyoplasia: A common, sporadic condition with congenital contractures. Am J Med Genet 15:571-590.
-
(1983)
Am J Med Genet
, vol.15
, pp. 571-590
-
-
Hall, J.G.1
Reed, S.D.2
Driscoll, E.P.3
-
23
-
-
33746474597
-
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
-
Hoffmann K, Miiller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boitshauser E, Talim B, Horvath R, Robinson PN, Lochmiiller H, Hiibner C, Mundlos S (2006) Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 79:303-312.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 303-312
-
-
Hoffmann, K.1
Miiller, J.S.2
Stricker, S.3
Megarbane, A.4
Rajab, A.5
Lindner, T.H.6
Cohen, M.7
Chouery, E.8
Adaimy, L.9
Ghanem, I.10
Delague, V.11
Boitshauser, E.12
Talim, B.13
Horvath, R.14
Robinson, P.N.15
Lochmiiller, H.16
Hiibner, C.17
Mundlos, S.18
-
24
-
-
40749093330
-
Acetylcholine receptor pathway mutations explain vanous fetal akinesia deformation sequence disorders
-
Michalk A, Stricker S, Becker JM, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott C-E, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blakenburg M, Mundlos S, Heller R, Hoffmann K (2008) Acetylcholine receptor pathway mutations explain vanous fetal akinesia deformation sequence disorders. Am J Hum Genet 82:464-476.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 464-476
-
-
Michalk, A.1
Stricker, S.2
Becker, J.M.3
Rupps, R.4
Pantzar, T.5
Miertus, J.6
Botta, G.7
Naretto, V.G.8
Janetzki, C.9
Yaqoob, N.10
Ott, C.-E.11
Seelow, D.12
Wieczorek, D.13
Fiebig, B.14
Wirth, B.15
Hoopmann, M.16
Walther, M.17
Korber, F.18
Blakenburg, M.19
Mundlos, S.20
Heller, R.21
Hoffmann, K.22
more..
-
25
-
-
33746474596
-
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
-
Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis lA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER (2006) Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 79:390-395.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 390-395
-
-
Morgan, N.V.1
Brueton, L.A.2
Cox, P.3
Greally, M.T.4
Tolmie, J.5
Pasha, S.6
Aligianisl, A.7
van Bokhoven, H.8
Marton, T.9
Al-Gazali, L.10
Morton, J.E.11
Oley, C.12
Johnson, C.A.13
Trembath, R.C.14
Brunner, H.G.15
Maher, E.R.16
-
26
-
-
33749862204
-
Impaired receptor clustering i n congenital myasthenic syndrome with novel RAPSN mutations
-
Miiller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Miiller-Felber W, Abicht A, Lochmiiller H (2006) Impaired receptor clustering i n congenital myasthenic syndrome with novel RAPSN mutations. Neurology 67: I 159- 1164.
-
(2006)
Neurology
, vol.67
, pp. 1159-1164
-
-
Miiller, J.S.1
Baumeister, S.K.2
Rasic, V.M.3
Krause, S.4
Todorovic, S.5
Kugler, K.6
Miiller-Felber, W.7
Abicht, A.8
Lochmiiller, H.9
-
27
-
-
34548288555
-
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Aktp athway
-
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS (2007a) Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Aktp athway. Am J Hum Gener 81:530-539.
-
(2007)
Am J Hum Gener
, vol.81
, pp. 530-539
-
-
Narkis, G.1
Ofir, R.2
Manor, E.3
Landau, D.4
Elbedour, K.5
Birk, O.S.6
-
28
-
-
34548288555
-
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIPSKIC, which encodes PIPKIy of the phosphatidylinositol pathway
-
Narkis G, Rivka O, Landau D, Manor E, Volokita M, Hershkowitz Elbedour K, Birk OS (2007b) Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIPSKIC, which encodes PIPKIy of the phosphatidylinositol pathway. Am J Hum Genet 81:530-539.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 530-539
-
-
Narkis, G.1
Rivka, O.2
Landau, D.3
Manor, E.4
Volokita, M.5
Hershkowitz Elbedour, K.6
Birk, O.S.7
-
29
-
-
38649121433
-
Mutations in mRNA export mediator GLEl result in a fetal motor neuron disease
-
Nousiainen HO, Kestila M, Pakkasjarvi Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L (2008) Mutations in mRNA export mediator GLEl result in a fetal motor neuron disease. Nut Genet 40: 155-157.
-
(2008)
Nut Genet
, vol.40
, pp. 155-157
-
-
Nousiainen, H.O.1
Kestila, M.2
Pakkasjarvi Honkala, H.3
Kuure, S.4
Tallila, J.5
Vuopala, K.6
Ignatius, J.7
Herva, R.8
Peltonen, L.9
-
30
-
-
38749120297
-
Rare missense and synonymous variants in UBEI are associated with X-linked infantile spinal muscular atrophy
-
Ramser J, Ahcarn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L (2008) Rare missense and synonymous variants in UBEI are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 82: 188-193.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 188-193
-
-
Ramser, J.1
Ahcarn, M.E.2
Lenski, C.3
Yariz, K.O.4
Hellebrand, H.5
von Rhein, M.6
Clark, R.D.7
Schmutzler, R.K.8
Lichtner, P.9
Hoffman, E.P.10
Meindl, A.11
Baumbach-Reardon, L.12
-
31
-
-
0021836870
-
Chromosomal abnormalities associated with congenital contractures (arthrogryposis)
-
Reed SD, Hall JG, Riccardi VM, Aylsworth A, Timmons C (1985) Chromosomal abnormalities associated with congenital contractures (arthrogryposis). Clin Genet 27:353-372.
-
(1985)
Clin Genet
, vol.27
, pp. 353-372
-
-
Reed, S.D.1
Hall, J.G.2
Riccardi, V.M.3
Aylsworth, A.4
Timmons, C.5
-
32
-
-
0022544358
-
Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk
-
Reid COMV, Hall JG, Anderson C, Bocian M, Carey J, Costa T, Curry C, Greenberg F, Horton W, Jones M, Lafer C, Larson E, Lubinsky M, McGillivray B , Pembry M, Popkin J, Seller M, Siebert V, Verhagen A (1986) Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk. Am J Med Genet 24:701-710.
-
(1986)
Am J Med Genet
, vol.24
, pp. 701-710
-
-
Reid, C.O.M.V.1
Hall, J.G.2
Anderson, C.3
Bocian, M.4
Carey, J.5
Costa, T.6
Curry, C.7
Greenberg, F.8
Horton, W.9
Jones, M.10
Lafer, C.11
Larson, E.12
Lubinsky, M.13
McGillivray, B.14
Pembry, M.15
Popkin, J.16
Seller, M.17
Siebert, V.18
Verhagen, A.19
-
33
-
-
75749120497
-
Orthopedic management principles
-
In: Arthrogryposis: A Text Atlas, Staheli LT, Hall JG, Jaffe KM, PaholkeDO, eds. Cambridge: Cambridge University Press
-
Staheli LT (1998) Orthopedic management principles. In: Arthrogryposis: A Text Atlas, Staheli LT, Hall JG, Jaffe KM, PaholkeDO, eds. Cambridge: Cambridge University Press, pp. 27-43.
-
(1998)
, pp. 27-43
-
-
Staheli, L.T.1
-
34
-
-
0037369803
-
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
-
Sung SS, Brassington AE, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB. Carey JC, Bamshad M (2003) Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 72:1681-690.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1681-690
-
-
Sung, S.S.1
Brassington, A.E.2
Grannatt, K.3
Rutherford, A.4
Whitby, F.G.5
Krakowiak, P.A.6
Jorde, L.B.7
Carey, J.C.8
Bamshad, M.9
-
35
-
-
16944364790
-
Multiple congenital contractures (arthrogryposis): Nature of the syndrome and hereditary considerations
-
Swinyard CA (1 963) Multiple congenital contractures (arthrogryposis): Nature of the syndrome and hereditary considerations. Proceedings of "The Second International Congress of Human Genetics" Vol. 3 pp 1397-1398.
-
(1963)
Proceedings of "The Second International Congress of Human Genetics"
, vol.3
, pp. 1397-1398
-
-
Swinyard, C.A.1
-
36
-
-
0030061903
-
Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis
-
Szoke G, Staheli LT, Jaffe K, Hall JG (1996) Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis. J Pediatr Orthop 16: 127-1 30.
-
(1996)
J Pediatr Orthop
, vol.16
-
-
Szoke, G.1
Staheli, L.T.2
Jaffe, K.3
Hall, J.G.4
-
37
-
-
0035080269
-
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence
-
Witters I, Moerman PH, Van Assche FA, Fryns JP (2001) Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence. Genet Counsel 12:91-94.
-
(2001)
Genet Counsel
, vol.12
, pp. 91-94
-
-
Witters, I.1
Moerman, P.H.2
Van Assche, F.A.3
Fryns, J.P.4
-
38
-
-
0037110998
-
Fetal akinesia deformation sequence: A study of 30 consecutive in utem diagnoses
-
Witters I, Moerman P, Fryns JP (2002) Fetal akinesia deformation sequence: A study of 30 consecutive in utem diagnoses. Am J Med Genet I13:23-38.
-
(2002)
Am J Med Genet
, vol.13 I
, pp. 23-38
-
-
Witters, I.1
Moerman, P.2
Fryns, J.P.3
|