-
1
-
-
0015031009
-
[The Dr syndrome. Study of a further case (46, XX, 14r)]
-
In French
-
Gilgenkrantz S, Cabrol C, Lausecker C, Hartley ME, Bohe B. [The Dr syndrome. Study of a further case (46, XX, 14r)]. Ann Genet 1971, 14:23-31. In French
-
(1971)
Ann Genet
, vol.14
, pp. 23-31
-
-
Gilgenkrantz, S.1
Cabrol, C.2
Lausecker, C.3
Hartley, M.E.4
Bohe, B.5
-
2
-
-
0019834614
-
Ring chromosome 14: a distinct clinical entity
-
Schmidt R, Eviatar L, Nitowsky HM, Wong M, Miranda S. Ring chromosome 14: a distinct clinical entity. J Med Genet 1981, 18:304-7.
-
(1981)
J Med Genet
, vol.18
, pp. 304-307
-
-
Schmidt, R.1
Eviatar, L.2
Nitowsky, H.M.3
Wong, M.4
Miranda, S.5
-
3
-
-
0019442464
-
Ring 14 chromosome: association with seizures
-
Lippe B M, Sparkes RS. Ring 14 chromosome: association with seizures. Am J Genet 1981, 9:301-5.
-
(1981)
Am J Genet
, vol.9
, pp. 301-305
-
-
Lippe, B.M.1
Sparkes, R.S.2
-
4
-
-
0019468393
-
Inheritance of a ring 14 chromosome
-
Bowser Riley S, Buckton KE, Ratcliffe SG, Syme J. Inheritance of a ring 14 chromosome. J Med Genet 1981, 18:209-13.
-
(1981)
J Med Genet
, vol.18
, pp. 209-213
-
-
Bowser Riley, S.1
Buckton, K.E.2
Ratcliffe, S.G.3
Syme, J.4
-
5
-
-
0020953743
-
Ring chromosome 14. A distinct clinical entity
-
Fryns JP, Kubien E, Kleczkowska A, Nawrocka-Kanska B, Van den Berghe H. Ring chromosome 14. A distinct clinical entity. J Genet Hum 1983, 31:367-75.
-
(1983)
J Genet Hum
, vol.31
, pp. 367-375
-
-
Fryns, J.P.1
Kubien, E.2
Kleczkowska, A.3
Nawrocka-Kanska, B.4
Van den Berghe, H.5
-
6
-
-
0021277930
-
[Ring chromosome 14. I. A case report on homogeneous r(14)]
-
(In French)
-
Raoul O, Razavi F, Lescs MC, Bouhanna A. [Ring chromosome 14. I. A case report on homogeneous r(14)]. Ann Genet 1984, 27:88-90. (In French)
-
(1984)
Ann Genet
, vol.27
, pp. 88-90
-
-
Raoul, O.1
Razavi, F.2
Lescs, M.C.3
Bouhanna, A.4
-
7
-
-
0021255464
-
[Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype]
-
(In French)
-
Rethoré MO, Caille B, Huet de Barochez Y, de Blois MC, Ravel A, Lejeune J. [Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype]. Ann Genet 1984, 27:91-95. (In French)
-
(1984)
Ann Genet
, vol.27
, pp. 91-95
-
-
Rethoré, M.O.1
Caille, B.2
Huet de Barochez, Y.3
de Blois, M.C.4
Ravel, A.5
Lejeune, J.6
-
8
-
-
0025368059
-
Transmission of ring 14 chromosome from mother to two sons
-
Matalon R, Supple P, Wyandt H, Rosenthal IM. Transmission of ring 14 chromosome from mother to two sons. Am J Med Genet 1990, 36:381-85.
-
(1990)
Am J Med Genet
, vol.36
, pp. 381-385
-
-
Matalon, R.1
Supple, P.2
Wyandt, H.3
Rosenthal, I.M.4
-
9
-
-
0026009081
-
Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review
-
Zelante L, Torricelli F, Calvano S, Mingarelli R, Dallapiccola B. Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. Ann Genet 1991, 34:93-97.
-
(1991)
Ann Genet
, vol.34
, pp. 93-97
-
-
Zelante, L.1
Torricelli, F.2
Calvano, S.3
Mingarelli, R.4
Dallapiccola, B.5
-
10
-
-
0026664906
-
Ring 14 with complex partial seizures: a case report
-
Shirasaka Y, Ito M, Okuno T, Fujii T, Nozaki K, Mikawa H. Ring 14 with complex partial seizures: a case report. Brain Dev 1992, 14:257-60.
-
(1992)
Brain Dev
, vol.14
, pp. 257-260
-
-
Shirasaka, Y.1
Ito, M.2
Okuno, T.3
Fujii, T.4
Nozaki, K.5
Mikawa, H.6
-
11
-
-
0032958516
-
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum
-
Ono J, Nishiike K, Imai K, Otani K, Okada S. Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. Pediatr Neurol 1999, 20:70-72.
-
(1999)
Pediatr Neurol
, vol.20
, pp. 70-72
-
-
Ono, J.1
Nishiike, K.2
Imai, K.3
Otani, K.4
Okada, S.5
-
12
-
-
0036605106
-
Further delineation of the chromosome 14q terminal deletion syndrome
-
van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Genet 2002, 110:65-72.
-
(2002)
Am J Genet
, vol.110
, pp. 65-72
-
-
van Karnebeek, C.D.1
Quik, S.2
Sluijter, S.3
Hulsbeek, M.M.4
Hoovers, J.M.5
Hennekam, R.C.6
-
13
-
-
0042916500
-
Ring chromosome 14 with localization-related epilepsy: three cases
-
Morimoto M, Usuku T, Tanaka M. Ring chromosome 14 with localization-related epilepsy: three cases. Epilepsia 2003, 44:1245-49.
-
(2003)
Epilepsia
, vol.44
, pp. 1245-1249
-
-
Morimoto, M.1
Usuku, T.2
Tanaka, M.3
-
14
-
-
33646380349
-
The current etiologic profile and neurodevelopmental outcome of seizures in term newborn infants
-
Tekgul H, Gauvreau K, Soul J. The current etiologic profile and neurodevelopmental outcome of seizures in term newborn infants. Pediatrics 2006, 117:1270-80.
-
(2006)
Pediatrics
, vol.117
, pp. 1270-1280
-
-
Tekgul, H.1
Gauvreau, K.2
Soul, J.3
-
15
-
-
33646081041
-
Epilepsy syndromes in infancy
-
Korff CM, Nordli DR. Epilepsy syndromes in infancy. Pediatr Neurol 2006, 34:253-63.
-
(2006)
Pediatr Neurol
, vol.34
, pp. 253-263
-
-
Korff, C.M.1
Nordli, D.R.2
-
16
-
-
0036123516
-
Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters
-
Singh R, Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002, 43:127-40.
-
(2002)
Epilepsia
, vol.43
, pp. 127-140
-
-
Singh, R.1
Gardner, R.J.2
Crossland, K.M.3
Scheffer, I.E.4
Berkovic, S.F.5
-
17
-
-
16244401127
-
Aberrations chromosomiques associées à une épilepsie
-
Bahi-Buisson N, Ville D, Eisermann M, Plouin P, Kaminska A, Chiron C. Aberrations chromosomiques associées à une épilepsie. Arch Pediatr 2005, 12:449-58.
-
(2005)
Arch Pediatr
, vol.12
, pp. 449-458
-
-
Bahi-Buisson, N.1
Ville, D.2
Eisermann, M.3
Plouin, P.4
Kaminska, A.5
Chiron, C.6
-
18
-
-
0030911459
-
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome
-
Inoue Y, Fujiwara T, Matsuda K. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. Brain 1997, 120:939-53.
-
(1997)
Brain
, vol.120
, pp. 939-953
-
-
Inoue, Y.1
Fujiwara, T.2
Matsuda, K.3
-
19
-
-
33644798895
-
Early pattern of epilepsy in the ring 20 chromosome syndrome
-
Ville D, Kaminska A, Bahi-Buisson N. Early pattern of epilepsy in the ring 20 chromosome syndrome. Epilepsia 2006, 47:543-49.
-
(2006)
Epilepsia
, vol.47
, pp. 543-549
-
-
Ville, D.1
Kaminska, A.2
Bahi-Buisson, N.3
-
20
-
-
15144357226
-
Angelman syndrome: correlations between epilepsy phenotypes and genotypes
-
Minassian BA, DeLorey TM, Olsen RW. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998, 43:485-93.
-
(1998)
Ann Neurol
, vol.43
, pp. 485-493
-
-
Minassian, B.A.1
DeLorey, T.M.2
Olsen, R.W.3
-
21
-
-
44849144752
-
The three stages of epilepsy in patients with CDKL5 mutations
-
Bahi-Buisson N, Kaminska A, Boddaert N. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008, 49:1027-37.
-
(2008)
Epilepsia
, vol.49
, pp. 1027-1037
-
-
Bahi-Buisson, N.1
Kaminska, A.2
Boddaert, N.3
-
23
-
-
33745229227
-
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases
-
Elia M, Striano P, Fichera M. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. Epilepsia 2006, 47:-38.
-
(2006)
Epilepsia
, vol.47
, pp. 38
-
-
Elia, M.1
Striano, P.2
Fichera, M.3
-
24
-
-
25644445367
-
FISH- mapping of telomeric 14q32 deletions: search for cause of seizures
-
Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW. FISH- mapping of telomeric 14q32 deletions: search for cause of seizures. Am J Med Genet A 2005, 138:218-24.
-
(2005)
Am J Med Genet A
, vol.138
, pp. 218-224
-
-
Schlade-Bartusiak, K.1
Costa, T.2
Summers, A.M.3
Nowaczyk, M.J.4
Cox, D.W.5
-
25
-
-
33645061291
-
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment
-
Gospe Sydney M. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. Curr Opin Neurol 2006, 19:148-53.
-
(2006)
Curr Opin Neurol
, vol.19
, pp. 148-153
-
-
Gospe Sydney, M.1
-
26
-
-
20144366421
-
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
-
Moretti P, Sahoo T, Hyland K. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology 2005, 64:1088-90.
-
(2005)
Neurology
, vol.64
, pp. 1088-1090
-
-
Moretti, P.1
Sahoo, T.2
Hyland, K.3
|