-
1
-
-
0002203594
-
Congenital anomalies of the central nervous system
-
Behrman RE, Kliegman RM, Jenson HB, eds. 16th edn. Philadelphia: Saunders
-
Haslam RHA. Congenital anomalies of the central nervous system. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson textbook of pediatrics. 16th edn. Philadelphia: Saunders, 2000:1803-13.
-
(2000)
Nelson Textbook of Pediatrics
, pp. 1803-1813
-
-
Haslam, R.H.A.1
-
2
-
-
33746649741
-
What primary microcephaly can tell us about brain growth?
-
Cox J, Jackson AP, Bond J, Woods CG. What primary microcephaly can tell us about brain growth? Trends Mol Med 2006;12:358-66.
-
(2006)
Trends Mol Med
, vol.12
, pp. 358-366
-
-
Cox, J.1
Jackson, A.P.2
Bond, J.3
Woods, C.G.4
-
3
-
-
4844225810
-
Genetic analysis of primary microcephaly in Indian families: Novel ASPM mutations
-
Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC. Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Clin Genet 2004;66:341-8.
-
(2004)
Clin Genet
, vol.66
, pp. 341-348
-
-
Kumar, A.1
Blanton, S.H.2
Babu, M.3
Markandaya, M.4
Girimaji, S.C.5
-
4
-
-
1342285538
-
Human microcephaly
-
Woods CG. Human microcephaly. Curr Opin Neurobiol 2004;14:112-17.
-
(2004)
Curr Opin Neurobiol
, vol.14
, pp. 112-117
-
-
Woods, C.G.1
-
5
-
-
17644399484
-
Autosomal recessive primary, microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings
-
Woods CG, Bond J, Enard W. Autosomal recessive primary, microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 2005;76:717-28.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 717-728
-
-
Woods, C.G.1
Bond, J.2
Enard, W.3
-
6
-
-
0345195803
-
Microcephaly
-
Motulsy AG, Bobrow M, Harper PS, Scriver C, eds. Oxford: Medical Publishers
-
Baraitser B. Microcephaly. In: Motulsy AG, Bobrow M, Harper PS, Scriver C, eds. The Genetics of neurological disorders: Oxford monograph on medical genetics. Oxford: Medical Publishers, 1990;18:26-33.
-
(1990)
The Genetics of Neurological Disorders: Oxford Monograph on Medical Genetics
, vol.18
, pp. 26-33
-
-
Baraitser, B.1
-
7
-
-
77949275798
-
Many roads lead to primary autosomal recessive microcephaly
-
Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol 2010;90:363-83.
-
(2010)
Prog Neurobiol
, vol.90
, pp. 363-383
-
-
Kaindl, A.M.1
Passemard, S.2
Kumar, P.3
Kraemer, N.4
Issa, L.5
Zwirner, A.6
Gerard, B.7
Verloes, A.8
Mani, S.9
Gressens, P.10
-
8
-
-
70350228242
-
Primary microcephaly: Do all roads lead to Rome?
-
Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? Trends Genet 2009;25:501-10.
-
(2009)
Trends Genet
, vol.25
, pp. 501-510
-
-
Thornton, G.K.1
Woods, C.G.2
-
9
-
-
70349667037
-
Expanding the clinical and neuroradiological phenotype of primary microcephaly (MCPH) due to ASPM mutations
-
Passemard STL, Elmaleh M, Afenjar A, Alessandri JL, Andria G, Billette de Villemeur T, Boespflug-Tanguy O, Burglen L, Del Gundice E, Guimiot F, Hyon C, Isidor B, Megarbane A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Expanding the clinical and neuroradiological phenotype of primary microcephaly (MCPH) due to ASPM mutations. Neurology 2009;73:962-9.
-
(2009)
Neurology
, vol.73
, pp. 962-969
-
-
Passemard, S.T.L.1
Elmaleh, M.2
Afenjar, A.3
Alessandri, J.L.4
Andria, G.5
Billette De Villemeur, T.6
Boespflug-Tanguy, O.7
Burglen, L.8
Del Gundice, E.9
Guimiot, F.10
Hyon, C.11
Isidor, B.12
Megarbane, A.13
Moog, U.14
Odent, S.15
Hernandez, K.16
Pouvreau, N.17
Scala, I.18
Schaer, M.19
Gressens, P.20
Gerard, B.21
Verloes, A.22
more..
-
10
-
-
0032231397
-
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
-
Jackson AP, McHale DP, Campbell DA, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998;63:541-6.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 541-546
-
-
Jackson, A.P.1
McHale, D.P.2
Campbell, D.A.3
Rashid, Y.4
Mannan, J.5
Karbani, G.6
Corry, P.7
Levene, M.I.8
Mueller, R.F.9
Markham, A.F.10
Lench, N.J.11
Woods, C.G.12
-
11
-
-
0036302105
-
Identification of microcephalin, a protein implicated in determining the size of the human brain
-
Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002;71:136-42.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 136-142
-
-
Jackson, A.P.1
Eastwood, H.2
Bell, S.M.3
Adu, J.4
Toomes, C.5
Carr, I.M.6
Roberts, E.7
Hampshire, D.J.8
Crow, Y.J.9
Mighell, A.J.10
Karbani, G.11
Jafri, H.12
Rashid, Y.13
Mueller, R.F.14
Markham, A.F.15
Woods, C.G.16
-
12
-
-
32444450454
-
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
-
Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006;118:708-15.
-
(2006)
Hum Genet
, vol.118
, pp. 708-715
-
-
Garshasbi, M.1
Motazacker, M.M.2
Kahrizi, K.3
Behjati, F.4
Abedini, S.S.5
Nieh, S.E.6
Firouzabadi, S.G.7
Becker, C.8
Rüschendorf, F.9
Nürnberg, P.10
Tzschach, A.11
Vazifehmand, R.12
Erdogan, F.13
Ullmann, R.14
Lenzner, S.15
Kuss, A.W.16
Ropers, H.H.17
Najmabadi, H.18
-
13
-
-
0032752596
-
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2
-
DOI 10.1038/sj.ejhg.5200385
-
Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 1999;7:815-20. (Pubitemid 29516241)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.7
, pp. 815-820
-
-
Roberts, E.1
Jackson, A.P.2
Carradice, A.C.3
Deeble, V.J.4
Mannan, J.5
Rashid, Y.6
Jafri, H.7
McHale, D.P.8
Markham, A.F.9
Lench, N.J.10
Woods, C.G.11
-
14
-
-
0033912946
-
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
-
Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 2000;66:724-7.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 724-727
-
-
Moynihan, L.1
Jackson, A.P.2
Roberts, E.3
Karbani, G.4
Lewis, I.5
Corry, P.6
Turner, G.7
Mueller, R.F.8
Lench, N.J.9
Woods, C.G.10
-
15
-
-
0033361792
-
Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15
-
Jamieson CR, Govaerts C, Abramowicz MJ. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 1999;65:1465-9.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1465-1469
-
-
Jamieson, C.R.1
Govaerts, C.2
Abramowicz, M.J.3
-
16
-
-
0033659637
-
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32
-
Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 2000;67:1575-7.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1575-1577
-
-
Jamieson, C.R.1
Fryns, J.P.2
Jacobs, J.3
Matthijs, G.4
Abramowicz, M.J.5
-
17
-
-
0033660432
-
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31
-
Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 2000;67:1578-80.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1578-1580
-
-
Pattison, L.1
Crow, Y.J.2
Deeble, V.J.3
Jackson, A.P.4
Jafri, H.5
Rashid, Y.6
Roberts, E.7
Woods, C.G.8
-
18
-
-
0036787796
-
ASPM is a major determinant of cerebral cortical size
-
Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. ASPM is a major determinant of cerebral cortical size. Nat Genet 2002;32:316-20.
-
(2002)
Nat Genet
, vol.32
, pp. 316-320
-
-
Bond, J.1
Roberts, E.2
Mochida, G.H.3
Hampshire, D.J.4
Scott, S.5
Askham, J.M.6
Springell, K.7
Mahadevan, M.8
Crow, Y.J.9
Markham, A.F.10
Walsh, C.A.11
Woods, C.G.12
-
19
-
-
62649118818
-
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly
-
Kumar A, Girimaji SC, Duvvari MR, Blanton SH. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet 2009;84:286-90.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 286-290
-
-
Kumar, A.1
Girimaji, S.C.2
Duvvari, M.R.3
Blanton, S.H.4
-
20
-
-
33646417060
-
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene
-
Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene. Neurogenetics 2006;7:105-10.
-
(2006)
Neurogenetics
, vol.7
, pp. 105-110
-
-
Gul, A.1
Hassan, M.J.2
Mahmood, S.3
Chen, W.4
Rahmani, S.5
Naseer, M.I.6
Dellefave, L.7
Muhammad, N.8
Rafiq, M.A.9
Ansar, M.10
Chishti, M.S.11
Ali, G.12
Siddique, T.13
Ahmad, W.14
-
21
-
-
0038163514
-
A Brazilian locus for autosomal recessive primary microcephaly maps to 13q12.2
-
Leal GF, Roberts E, Silva EO, Costa SMR, Hampshire DJ, Woods CG. A Brazilian locus for autosomal recessive primary microcephaly maps to 13q12.2. J Med Genet 2003;40:540-2.
-
(2003)
J Med Genet
, vol.40
, pp. 540-542
-
-
Leal, G.F.1
Roberts, E.2
Silva, E.O.3
Costa, S.M.R.4
Hampshire, D.J.5
Woods, C.G.6
-
22
-
-
33748656504
-
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
-
DOI 10.1007/s10038-006-0017-1
-
Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W. A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. J Hum Genet 2006;51:760-4. (Pubitemid 44386818)
-
(2006)
Journal of Human Genetics
, vol.51
, Issue.9
, pp. 760-764
-
-
Gul, A.1
Hassan, M.J.2
Hussain, S.3
Raza, S.I.4
Chishti, M.S.5
Ahmad, W.6
-
23
-
-
18644367387
-
Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
-
Roberts E, Hampshire DJ, Springell K, Pattison L, Crow Y, Jafri H, Corry P, Kabani G, Mannon J, Rashid Y, Keen J, Bond J, Woods CG. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002;39:718-21.
-
(2002)
J Med Genet
, vol.39
, pp. 718-721
-
-
Roberts, E.1
Hampshire, D.J.2
Springell, K.3
Pattison, L.4
Crow, Y.5
Jafri, H.6
Corry, P.7
Kabani, G.8
Mannon, J.9
Rashid, Y.10
Keen, J.11
Bond, J.12
Woods, C.G.13
-
24
-
-
0036210178
-
Premature chromosome condensatin in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition
-
Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, Trimborn M, Krebsova A, Richter R, Sperling K. Premature chromosome condensatin in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. Am J Hum Genet 2002;70:1015-22.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1015-1022
-
-
Neitzel, H.1
Neumann, L.M.2
Schindler, D.3
Wirges, A.4
Tönnies, H.5
Trimborn, M.6
Krebsova, A.7
Richter, R.8
Sperling, K.9
-
25
-
-
20144386602
-
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
-
Bond J, Roberts E, Springell K, Lizarraga S, Scott S, Higgins J, Hampshire DJ, Morrison E, Leal GF, Silva EO, Costa SM, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 2005;37:353-5.
-
(2005)
Nat Genet
, vol.37
, pp. 353-355
-
-
Bond, J.1
Roberts, E.2
Springell, K.3
Lizarraga, S.4
Scott, S.5
Higgins, J.6
Hampshire, D.J.7
Morrison, E.8
Leal, G.F.9
Silva, E.O.10
Costa, S.M.11
Karbani, G.12
Rashid, Y.13
Jafri, H.14
Bennett, C.15
Corry, P.16
Walsh, C.A.17
Woods, C.G.18
-
26
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 1988;16:1215.
-
(1988)
Nucleic Acids Research
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
27
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Krawetz S, Misener S, eds. Totowa, NJ: Humana Press
-
Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, eds. Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press, 2000;365-86.
-
(2000)
Bioinformatics Methods and Protocols: Methods in Molecular Biology
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.J.2
-
28
-
-
65949089612
-
The molecular landscape of ASPM mutations in primary microcephaly
-
Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet 2009;46:249-53.
-
(2009)
J Med Genet
, vol.46
, pp. 249-253
-
-
Nicholas, A.K.1
Swanson, E.A.2
Cox, J.J.3
Karbani, G.4
Malik, S.5
Springell, K.6
Hampshire, D.7
Ahmed, M.8
Bond, J.9
Di Benedetto, D.10
Fichera, M.11
Romano, C.12
Dobyns, W.B.13
Woods, C.G.14
-
29
-
-
0346119208
-
Evidence for a second gene for primary microcephaly at MCPH 5 on chromosome 1
-
Wallerman O, Eeghen AV, Kate LPT, Wadelius C. Evidence for a second gene for primary microcephaly at MCPH 5 on chromosome 1. Hereditas 2003;139:64-7.
-
(2003)
Hereditas
, vol.139
, pp. 64-67
-
-
Wallerman, O.1
Eeghen, A.V.2
Kate, L.P.T.3
Wadelius, C.4
-
30
-
-
25444514085
-
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein
-
Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet 2005;14:2155-65.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2155-2165
-
-
Kouprina, N.1
Pavlicek, A.2
Collins, N.K.3
Nakano, M.4
Noskov, V.N.5
Ohzeki, J.6
Mochida, G.H.7
Risinger, J.I.8
Goldsmith, P.9
Gunsior, M.10
Solomon, G.11
Gersch, W.12
Kim, J.H.13
Barrett, J.C.14
Walsh, C.A.15
Jurka, J.16
Masumoto, H.17
Larionov, V.18
-
31
-
-
0034734384
-
The BRCA1 C-terminal domain: Structure and function
-
Huyton T, Bates PA, Zhang X, Sternberg MJ, Freemont PS. The BRCA1 C-terminal domain: structure and function. Mutat Res 2000;460:319-32.
-
(2000)
Mutat Res
, vol.460
, pp. 319-332
-
-
Huyton, T.1
Bates, P.A.2
Zhang, X.3
Sternberg, M.J.4
Freemont, P.S.5
-
32
-
-
30844456213
-
Cytoskeletal genes regulating brain size
-
Bond J, Woods CG. Cytoskeletal genes regulating brain size. Curr Opin Cell Biol 2006;18:95-101.
-
(2006)
Curr Opin Cell Biol
, vol.18
, pp. 95-101
-
-
Bond, J.1
Woods, C.G.2
-
33
-
-
24944465271
-
ASPM mutations identified in patients with primary microcephaly and seizures
-
Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet 2005;42:725-9.
-
(2005)
J Med Genet
, vol.42
, pp. 725-729
-
-
Shen, J.1
Eyaid, W.2
Mochida, G.H.3
Al-Moayyad, F.4
Bodell, A.5
Woods, C.G.6
Walsh, C.A.7
-
34
-
-
78649632849
-
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly
-
Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. J Child Neurol 2009.
-
(2009)
J Child Neurol
-
-
Kousar, R.1
Nawaz, H.2
Khurshid, M.3
Ali, G.4
Khan, S.U.5
Mir, H.6
Ayub, M.7
Wali, A.8
Ali, N.9
Jelani, M.10
Basit, S.11
Ahmad, W.12
Ansar, M.13
-
35
-
-
77955068270
-
Mutations in Centrosomal Protein CEP152in Primary Microcephaly Families Linked to MCPH4
-
Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. Mutations in Centrosomal Protein CEP152in Primary Microcephaly Families Linked to MCPH4. Am J Hum Genet 2010;87:40-51.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 40-51
-
-
Guernsey, D.L.1
Jiang, H.2
Hussin, J.3
Arnold, M.4
Bouyakdan, K.5
Perry, S.6
Babineau-Sturk, T.7
Beis, J.8
Dumas, N.9
Evans, S.C.10
Ferguson, M.11
Matsuoka, M.12
Macgillivray, C.13
Nightingale, M.14
Patry, L.15
Rideout, A.L.16
Thomas, A.17
Orr, A.18
Hoffmann, I.19
Michaud, J.L.20
Awadalla, P.21
Meek, D.C.22
Ludman, M.23
Samuels, M.E.24
more..
|