-
1
-
-
0028871480
-
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome
-
Bonioli E, Palmieri A, Bertola A, Bellini C. 1995. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. Genet Counsel 6:309-312.
-
(1995)
Genet Counsel
, vol.6
, pp. 309-312
-
-
Bonioli, E.1
Palmieri, A.2
Bertola, A.3
Bellini, C.4
-
2
-
-
0029834620
-
Variant of Coffin-Siris syndrome or previously undescribed syndrome?
-
Braun-Quentin C, Kapferer L, Kotzot D. 1996. Variant of Coffin-Siris syndrome or previously undescribed syndrome? Am J Med Genet 64:568-572.
-
(1996)
Am J Med Genet
, vol.64
, pp. 568-572
-
-
Braun-Quentin, C.1
Kapferer, L.2
Kotzot, D.3
-
4
-
-
0018217838
-
The Coffin-Siris syndrome: Five new cases including two siblings
-
Carey JC, Hall BD. 1978. The Coffin-Siris syndrome: Five new cases including two siblings. Am J Dis Child 132:667-671.
-
(1978)
Am J Dis Child
, vol.132
, pp. 667-671
-
-
Carey, J.C.1
Hall, B.D.2
-
5
-
-
0014783843
-
Mental retardation with absent fifth fingernail and terminal phalanx
-
Coffin GS, Siris E. 1970. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433-439.
-
(1970)
Am J Dis Child
, vol.119
, pp. 433-439
-
-
Coffin, G.S.1
Siris, E.2
-
6
-
-
0033965757
-
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome
-
Elliott AM, Teebi AS. 2000. New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. Clin Dysmophol 9:15-19.
-
(2000)
Clin Dysmophol
, vol.9
, pp. 15-19
-
-
Elliott, A.M.1
Teebi, A.S.2
-
7
-
-
0035866023
-
Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study
-
Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J. 2001. Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study. Am J Med Genet 99:1-7.
-
(2001)
Am J Med Genet
, vol.99
, pp. 1-7
-
-
Fleck, B.J.1
Pandya, A.2
Vanner, L.3
Kerkering, K.4
Bodurtha, J.5
-
8
-
-
0022580819
-
The Coffin-Siris syndrome in two siblings
-
Franceschini P, Cirillo Silengo M, Bianco R, Biagioli M, Guala A, Lopez Bell G. 1986. The Coffin-Siris syndrome in two siblings. Pediatr Radiol 16:330-333.
-
(1986)
Pediatr Radiol
, vol.16
, pp. 330-333
-
-
Franceschini, P.1
Cirillo Silengo, M.2
Bianco, R.3
Biagioli, M.4
Guala, A.5
Lopez Bell, G.6
-
9
-
-
0021216949
-
The Coffin-Siris syndrome: Report of a family and further delineation
-
Haspeslagh M, Fryns JP, van den Berghe H. 1984. The Coffin-Siris syndrome: Report of a family and further delineation. Clin Genet 26:374-378.
-
(1984)
Clin Genet
, vol.26
, pp. 374-378
-
-
Haspeslagh, M.1
Fryns, J.P.2
Van Den Berghe, H.3
-
11
-
-
2442434509
-
Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH
-
Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Duno M, Kolvraa S, Lundsteen C. 2004. Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. Am J Med Genet Part A 127A:111-117.
-
(2004)
Am J Med Genet Part A
, vol.127
, pp. 111-117
-
-
Kirchhoff, M.1
Pedersen, S.2
Kjeldsen, E.3
Rose, H.4
Duno, M.5
Kolvraa, S.6
Lundsteen, C.7
-
12
-
-
0034167971
-
Triplets with growth failure, microcephaly, mental retardation, nail hypolplasia and corpus callosum agenesis: Is it a variant of Coffin-Siris or a new syndrome?
-
Kirel B, Kural N, Yakut A, Adapinar B. 2000. Triplets with growth failure, microcephaly, mental retardation, nail hypolplasia and corpus callosum agenesis: Is it a variant of Coffin-Siris or a new syndrome? Turk J Pediatr 42:171-176.
-
(2000)
Turk J Pediatr
, vol.42
, pp. 171-176
-
-
Kirel, B.1
Kural, N.2
Yakut, A.3
Adapinar, B.4
-
13
-
-
0031985172
-
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: The presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
-
Ounap K, Justus I, Lipping-Sitska M. 1998. Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: The presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? Clin Dysmorphol 7:45-50.
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 45-50
-
-
Ounap, K.1
Justus, I.2
Lipping-Sitska, M.3
-
14
-
-
0021351089
-
Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: A new familial syndrome
-
Qazi QH, Nangia BS. 1984. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: A new familial syndrome. J Pediatr 104:391-394.
-
(1984)
J Pediatr
, vol.104
, pp. 391-394
-
-
Qazi, Q.H.1
Nangia, B.S.2
-
15
-
-
0025787743
-
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the Coffin-Siris syndrome
-
Rabe P, Haverkamp F, Emons D, Rosskamp R, Zerres K, Passarge E. 1991. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the Coffin-Siris syndrome. Am J Med Genet 41:350-354.
-
(1991)
Am J Med Genet
, vol.41
, pp. 350-354
-
-
Rabe, P.1
Haverkamp, F.2
Emons, D.3
Rosskamp, R.4
Zerres, K.5
Passarge, E.6
-
17
-
-
0015099178
-
Impaired growth and onychodysplasia. Short children with tiny toenails
-
Senior B. 1971. Impaired growth and onychodysplasia. Short children with tiny toenails. Am J Dis Child 122:7-9.
-
(1971)
Am J Dis Child
, vol.122
, pp. 7-9
-
-
Senior, B.1
-
18
-
-
0028829319
-
The Coffin-Siris syndrome: Data on mental development, language, behavior and social skills in 12 children
-
Swillen A, Glorieux N, Peeters M, Fryns JP. 1995. The Coffin-Siris syndrome: Data on mental development, language, behavior and social skills in 12 children. Clin Genet 48:177-182.
-
(1995)
Clin Genet
, vol.48
, pp. 177-182
-
-
Swillen, A.1
Glorieux, N.2
Peeters, M.3
Fryns, J.P.4
-
19
-
-
0027394752
-
Brachymorphism-onychodysplasia-dysphalangism syndrome
-
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L. 1993. Brachymorphism-onychodysplasia-dysphalangism syndrome. J Med Genet 30:158-161.
-
(1993)
J Med Genet
, vol.30
, pp. 158-161
-
-
Verloes, A.1
Bonneau, D.2
Guidi, O.3
Berthier, M.4
Oriot, D.5
Van Maldergem, L.6
Koulischer, L.7
|