-
1
-
-
0025131567
-
Microcephaly: General considerations and aids to nosology
-
Opitz JM, Holt MC. Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Biol 1990;10:175-204.
-
(1990)
J Craniofac Genet Dev Biol
, vol.10
, pp. 175-204
-
-
Opitz, J.M.1
Holt, M.C.2
-
2
-
-
35548954131
-
Microcephaly syndromes
-
Abuelo D. Microcephaly syndromes. Semin Pediatr Neurol 2007;14:118-27.
-
(2007)
Semin Pediatr Neurol
, vol.14
, pp. 118-127
-
-
Abuelo, D.1
-
3
-
-
70349575001
-
Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
-
Ashwal S, Michelson D, Plawner L, et al. Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2009;73:887-97.
-
(2009)
Neurology
, vol.73
, pp. 887-897
-
-
Ashwal, S.1
Michelson, D.2
Plawner, L.3
-
4
-
-
77949275798
-
Many roads lead to primary autosomal recessive microcephaly
-
Kaindl AM, Passemard S, Kumar P, et al. 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
-
5
-
-
84860633072
-
A developmental and genetic classification for malformations of cortical development: Update 2012
-
Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135(Pt 5):1348-69.
-
(2012)
Brain
, vol.135
, Issue.PART 5
, pp. 1348-1369
-
-
Barkovich, A.J.1
Guerrini, R.2
Kuzniecky, R.I.3
-
6
-
-
84888844098
-
-
http://www.rcpch.ac.uk/child-health/research-projects/ uk-who-growth-charts-early-years/ uk-who-0-4-years-growth-charts-initi
-
-
-
-
7
-
-
84867884997
-
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
-
Bober MB, Niiler T, Duker AL, et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A 2012;158A:2719-25.
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 2719-2725
-
-
Bober, M.B.1
Niiler, T.2
Duker, A.L.3
-
8
-
-
79952532123
-
The shortest of the short: Pericentrin mutations and beyond
-
Rauch A. The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab 2011;25:125-30.
-
(2011)
Best Pract Res Clin Endocrinol Metab
, vol.25
, pp. 125-130
-
-
Rauch, A.1
-
9
-
-
3242881897
-
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome
-
O'Driscoll M, Gennery AR, Seidel J, et al. An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. DNA Repair (Amst) 2004;3:1227-35.
-
(2004)
DNA Repair (Amst)
, vol.3
, pp. 1227-1235
-
-
O'Driscoll, M.1
Gennery, A.R.2
Seidel, J.3
-
10
-
-
0028831333
-
Bloom's syndrome
-
German J. Bloom's syndrome. Dermatol Clin 1995;13:7-18.
-
(1995)
Dermatol Clin
, vol.13
, pp. 7-18
-
-
German, J.1
-
11
-
-
3242658933
-
Fanconi anaemia and leukaemia - Clinical and molecular aspects
-
Tischkowitz M, Dokal I. Fanconi anaemia and leukaemia-clinical and molecular aspects. Br J Haematol 2004;126:176-91.
-
(2004)
Br J Haematol
, vol.126
, pp. 176-191
-
-
Tischkowitz, M.1
Dokal, I.2
-
12
-
-
0345073699
-
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
-
O'Driscoll M, Ruiz-Perez VL, Woods CG, et al. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet 2003;33:497-501.
-
(2003)
Nat Genet
, vol.33
, pp. 497-501
-
-
O'Driscoll, M.1
Ruiz-Perez, V.L.2
Woods, C.G.3
-
13
-
-
84870657902
-
Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome
-
Ogi T, Walker S, Stiff T, et al. Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet 2012;8:e1002945.
-
(2012)
PLoS Genet
, vol.8
-
-
Ogi, T.1
Walker, S.2
Stiff, T.3
-
14
-
-
80053642194
-
Mechanisms and pathways of growth failure in primordial dwarfism
-
Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev 2011;25:2011-24.
-
(2011)
Genes Dev
, vol.25
, pp. 2011-2024
-
-
Klingseisen, A.1
Jackson, A.P.2
-
15
-
-
61649100746
-
Genomic microarrays in mental retardation: A practical workflow for diagnostic applications
-
Koolen DA, Pfundt R, de Leeuw N, et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 2009;30:283-92.
-
(2009)
Hum Mutat
, vol.30
, pp. 283-292
-
-
Koolen, D.A.1
Pfundt, R.2
De Leeuw, N.3
-
16
-
-
84864879854
-
Diagnostic interpretation of array data using public databases and internet sources
-
doi: 10.1002/ humu.22049
-
de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, et al. Diagnostic interpretation of array data using public databases and internet sources. Hum Mutat 2012;doi:10.1002/ humu.22049.
-
(2012)
Hum Mutat
-
-
De Leeuw, N.1
Dijkhuizen, T.2
Hehir-Kwa, J.Y.3
-
17
-
-
84867172514
-
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
-
Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012; 367:1321-31.
-
(2012)
N Engl J Med
, vol.367
, pp. 1321-1331
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Coe, B.P.3
-
18
-
-
34249904394
-
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
-
Kline AD, Krantz ID, Sommer A, et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007;143A:1287-96.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1287-1296
-
-
Kline, A.D.1
Krantz, I.D.2
Sommer, A.3
-
19
-
-
84862820018
-
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
-
de Munnik SA, Bicknell LS, Aftimos S, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet 2012;20:598-606.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 598-606
-
-
De Munnik, S.A.1
Bicknell, L.S.2
Aftimos, S.3
-
20
-
-
79953198187
-
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
-
Bicknell LS, Bongers EM, Leitch A, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet 2011;43:356-9.
-
(2011)
Nat Genet
, vol.43
, pp. 356-359
-
-
Bicknell, L.S.1
Bongers, E.M.2
Leitch, A.3
-
21
-
-
78049336070
-
WDR62 is associated with the spindle pole and is mutated in human microcephaly
-
Nicholas AK, Khurshid M, Désir J, et al. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 2010;42:1010-14.
-
(2010)
Nat Genet
, vol.42
, pp. 1010-1014
-
-
Nicholas, A.K.1
Khurshid, M.2
Désir, J.3
-
22
-
-
79957626260
-
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
-
Tischfield MA, Cederquist GY, Gupta ML Jr, et al. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev 2011;21:286-94.
-
(2011)
Curr Opin Genet Dev
, vol.21
, pp. 286-294
-
-
Tischfield, M.A.1
Cederquist, G.Y.2
Gupta Jr., M.L.3
-
24
-
-
56349148855
-
Fetal alcohol spectrum disorders and their persisting sequelae in adult life
-
Spohr HL, Steinhausen HC. Fetal alcohol spectrum disorders and their persisting sequelae in adult life. Dtsch Arztebl Int 2008;105:693-8.
-
(2008)
Dtsch Arztebl Int
, vol.105
, pp. 693-698
-
-
Spohr, H.L.1
Steinhausen, H.C.2
-
25
-
-
0037390829
-
Lissencephaly and the molecular basis of neuronal migration
-
Spec No 1
-
Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;12 Spec No 1:R89-96.
-
(2003)
Hum Mol Genet
, vol.12
-
-
Kato, M.1
Dobyns, W.B.2
-
26
-
-
33747772028
-
Rubinstein-Taybi syndrome
-
Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet 2006;14:981-5.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 981-985
-
-
Hennekam, R.C.1
-
27
-
-
77956099264
-
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
-
El Chehadeh S, Aral B, Gigot N, et al. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome J Med Genet 2010;47:549-53.
-
(2010)
J Med Genet
, vol.47
, pp. 549-553
-
-
El Chehadeh, S.1
Aral, B.2
Gigot, N.3
|