-
1
-
-
77954925246
-
Medical comorbidities in autism: Challenges to diagnosis and treatment
-
Bauman M.L. Medical comorbidities in autism: Challenges to diagnosis and treatment. Neurotherapeutics 2010, 7:320-327.
-
(2010)
Neurotherapeutics
, vol.7
, pp. 320-327
-
-
Bauman, M.L.1
-
3
-
-
73149102059
-
Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, United States, 2006
-
Rice C. Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, United States, 2006. MMWR Surveill Summ 2009, 58(10):1-20.
-
(2009)
MMWR Surveill Summ
, vol.58
, Issue.10
, pp. 1-20
-
-
Rice, C.1
-
4
-
-
42149168524
-
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
-
Professional Practice and Guidelines Committee
-
Schaefer G.B., Mendelsohn N.J., Professional Practice and Guidelines Committee Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 2008, 10:301-305.
-
(2008)
Genet Med
, vol.10
, pp. 301-305
-
-
Schaefer, G.B.1
Mendelsohn, N.J.2
-
5
-
-
70349564808
-
The co-occurrence of autism and birth defects: prevalence and risk in a population-based cohort
-
Schendel D.E., Autry A., Wines R., et al. The co-occurrence of autism and birth defects: prevalence and risk in a population-based cohort. Dev Med Child Neurol 2009, 51:779-786.
-
(2009)
Dev Med Child Neurol
, vol.51
, pp. 779-786
-
-
Schendel, D.E.1
Autry, A.2
Wines, R.3
-
6
-
-
67749109981
-
Association of family history of autoimmune diseases and autism spectrum disorders
-
Atladottir H.O., Pedersen M.G., Scient C., et al. Association of family history of autoimmune diseases and autism spectrum disorders. Pediatrics 2009, 124:687-694.
-
(2009)
Pediatrics
, vol.124
, pp. 687-694
-
-
Atladottir, H.O.1
Pedersen, M.G.2
Scient, C.3
-
7
-
-
0030200135
-
Strong association of the third hypervariable region of the HLA-DR beta 1 with autism
-
Warren R.P., Odell J.D., Warren W.L., et al. Strong association of the third hypervariable region of the HLA-DR beta 1 with autism. JNeuroimmunol 1996, 67:97-102.
-
(1996)
JNeuroimmunol
, vol.67
, pp. 97-102
-
-
Warren, R.P.1
Odell, J.D.2
Warren, W.L.3
-
9
-
-
34247531538
-
Paternal age and autism are associated in a family-based sample
-
Cantor R.M., Yoon J.L., Furr J., et al. Paternal age and autism are associated in a family-based sample. Mol Psychiatry 2007, 12:419-421.
-
(2007)
Mol Psychiatry
, vol.12
, pp. 419-421
-
-
Cantor, R.M.1
Yoon, J.L.2
Furr, J.3
-
10
-
-
34147142080
-
Maternal and paternal age and risk of autism spectrum disorders
-
Croen L.A., Najjar D.V., Fireman B., et al. Maternal and paternal age and risk of autism spectrum disorders. Arch Pediatr Adolesc Med 2007, 161:334-340.
-
(2007)
Arch Pediatr Adolesc Med
, vol.161
, pp. 334-340
-
-
Croen, L.A.1
Najjar, D.V.2
Fireman, B.3
-
11
-
-
70349601666
-
Brief report: parental age and sex ratio in autism
-
Anello A., Reichenberg A., Luo X., et al. Brief report: parental age and sex ratio in autism. JAutism Dev Disord 2009, 39:1487-1492.
-
(2009)
JAutism Dev Disord
, vol.39
, pp. 1487-1492
-
-
Anello, A.1
Reichenberg, A.2
Luo, X.3
-
12
-
-
44449090109
-
Parental psychiatric disorders associated with autism spectrum disorders in offspring
-
Daniels J.L., Forssen U., Hultman C.M., et al. Parental psychiatric disorders associated with autism spectrum disorders in offspring. Pediatrics 2008, 121:1357-1362.
-
(2008)
Pediatrics
, vol.121
, pp. 1357-1362
-
-
Daniels, J.L.1
Forssen, U.2
Hultman, C.M.3
-
13
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak B.J., Deriziotis P., Lee C., et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011, 43:585-589.
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
-
14
-
-
33748742182
-
Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders
-
Schaefer G.B., Lutz R.E. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med 2006, 8:549-556.
-
(2006)
Genet Med
, vol.8
, pp. 549-556
-
-
Schaefer, G.B.1
Lutz, R.E.2
-
15
-
-
17644411982
-
The yield of laboratory investigations in children with infantile autism
-
Kosinovsky B., Hermon S., Yoran-Hegesh R., et al. The yield of laboratory investigations in children with infantile autism. JNeural Transm 2005, 112:587-596.
-
(2005)
JNeural Transm
, vol.112
, pp. 587-596
-
-
Kosinovsky, B.1
Hermon, S.2
Yoran-Hegesh, R.3
-
16
-
-
80052535784
-
Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center
-
Roesser J. Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center. Clin Pediatr (Phila) 2011, 50(9):834-843. 10.1177/0009922811406261.
-
(2011)
Clin Pediatr (Phila)
, vol.50
, Issue.9
, pp. 834-843
-
-
Roesser, J.1
-
17
-
-
77955271881
-
Recent advances in the pathogenesis of syndromic autisms
-
Benvenuto A., Manzi B., Alessandrelli R., et al. Recent advances in the pathogenesis of syndromic autisms. Int J Pediatr 2009, 2009:198736.
-
(2009)
Int J Pediatr
, vol.2009
, pp. 198736
-
-
Benvenuto, A.1
Manzi, B.2
Alessandrelli, R.3
-
18
-
-
77950564908
-
Clinical genetic testing for patients with autism spectrum disorders
-
Shen Y., Dies K.A., Holm I.A., et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010, 125:727-735.
-
(2010)
Pediatrics
, vol.125
, pp. 727-735
-
-
Shen, Y.1
Dies, K.A.2
Holm, I.A.3
-
20
-
-
32444443557
-
Etiologic yield of autistic spectrum disorders: a prospective study
-
Battaglia A., Carey J.C. Etiologic yield of autistic spectrum disorders: a prospective study. Am J Med Genet 2006, 142C:3-7.
-
(2006)
Am J Med Genet
, vol.142 C
, pp. 3-7
-
-
Battaglia, A.1
Carey, J.C.2
-
21
-
-
74149092672
-
MRI findings in 77 children with non-syndromic autistic disorder
-
Boddaert N., Zilbovicius M., Philipe A., et al. MRI findings in 77 children with non-syndromic autistic disorder. PLoS One 2009, 4(2):e4415.
-
(2009)
PLoS One
, vol.4
, Issue.2
-
-
Boddaert, N.1
Zilbovicius, M.2
Philipe, A.3
-
22
-
-
79952313620
-
Etiologic heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
-
Betancur C. Etiologic heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011, 1380:42-77.
-
(2011)
Brain Res
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
23
-
-
79955030459
-
Autism spectrum disorders-a genetics review
-
Miles J.H. Autism spectrum disorders-a genetics review. Genet Med 2011, 13:278-294.
-
(2011)
Genet Med
, vol.13
, pp. 278-294
-
-
Miles, J.H.1
-
27
-
-
77049116036
-
Pediatric neurological syndromes and inborn errors of purine metabolism
-
Camici M., Micheli V., Ipata P.L., et al. Pediatric neurological syndromes and inborn errors of purine metabolism. Neurochem Int 2010, 56:367-378.
-
(2010)
Neurochem Int
, vol.56
, pp. 367-378
-
-
Camici, M.1
Micheli, V.2
Ipata, P.L.3
-
28
-
-
0021645906
-
An infantile autistic syndrome characterized by the presence of succinylpurines in body fluid
-
Jaeken J., Van den Berghe G. An infantile autistic syndrome characterized by the presence of succinylpurines in body fluid. Lancet 1984, 2:1058-1061.
-
(1984)
Lancet
, vol.2
, pp. 1058-1061
-
-
Jaeken, J.1
Van den Berghe, G.2
-
29
-
-
0034968336
-
Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency
-
Rogers M.H., Lwin R., Fairbanks L., et al. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. JPediatr 2001, 139:44-50.
-
(2001)
JPediatr
, vol.139
, pp. 44-50
-
-
Rogers, M.H.1
Lwin, R.2
Fairbanks, L.3
-
30
-
-
37849026046
-
The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders
-
Hettinger J.A., Liu X., Holden J.J.A. The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders. JAutism Dev Disord 2008, 38:14-19.
-
(2008)
JAutism Dev Disord
, vol.38
, pp. 14-19
-
-
Hettinger, J.A.1
Liu, X.2
Holden, J.J.A.3
-
31
-
-
85047685961
-
Autism: evidence of association with adenosine deaminase genetic polymorphism
-
Bottini N., De Luca D., Saccucci P., et al. Autism: evidence of association with adenosine deaminase genetic polymorphism. Neurogenetics 2001, 3:111-113.
-
(2001)
Neurogenetics
, vol.3
, pp. 111-113
-
-
Bottini, N.1
De Luca, D.2
Saccucci, P.3
-
32
-
-
0034606332
-
Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies
-
Persico A.M., Militerni R., Bravaccio C., et al. Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies. Am J Med Genet 2000, 96:784-790.
-
(2000)
Am J Med Genet
, vol.96
, pp. 784-790
-
-
Persico, A.M.1
Militerni, R.2
Bravaccio, C.3
-
33
-
-
51049120436
-
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients
-
Knerr I., Gibson K.M., Jakobs C., et al. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr 2008, 13:598-605.
-
(2008)
CNS Spectr
, vol.13
, pp. 598-605
-
-
Knerr, I.1
Gibson, K.M.2
Jakobs, C.3
-
35
-
-
79251478428
-
Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?
-
Wang L., Angley M.T., Sorich M.J., et al. Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?. Autism Res 2010, 3:268-272.
-
(2010)
Autism Res
, vol.3
, pp. 268-272
-
-
Wang, L.1
Angley, M.T.2
Sorich, M.J.3
-
36
-
-
79951701408
-
Disorders of creatine transport and metabolism
-
Longo N., Ardon O., Vanzo R., et al. Disorders of creatine transport and metabolism. Am J Med Genet 2011, 157:72-78.
-
(2011)
Am J Med Genet
, vol.157
, pp. 72-78
-
-
Longo, N.1
Ardon, O.2
Vanzo, R.3
-
37
-
-
0037306564
-
Creatine deficiency syndromes
-
Schulze A. Creatine deficiency syndromes. Mol Cell Biochem 2003, 244:143-150.
-
(2003)
Mol Cell Biochem
, vol.244
, pp. 143-150
-
-
Schulze, A.1
-
38
-
-
76249097469
-
Creatine and creatine deficiency syndromes: biochemical and clinical aspects
-
Nasrallah F., Feki M., Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol 2010, 42:163-171.
-
(2010)
Pediatr Neurol
, vol.42
, pp. 163-171
-
-
Nasrallah, F.1
Feki, M.2
Kaabachi, N.3
-
40
-
-
0036990821
-
Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution
-
Ramaekers V.T., Hausler T., Opladen T., et al. Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics 2002, 33:301-308.
-
(2002)
Neuropediatrics
, vol.33
, pp. 301-308
-
-
Ramaekers, V.T.1
Hausler, T.2
Opladen, T.3
-
41
-
-
82455167843
-
Cerebral folate deficiency: a neurometabolic syndrome?
-
[Epub ahead of print]
-
Mangold S., Blau N., Opladen T., et al. Cerebral folate deficiency: a neurometabolic syndrome?. Mol Genet Metab 2011, [Epub ahead of print]. 10.1016/j.ymgme.2011.06.004.
-
(2011)
Mol Genet Metab
-
-
Mangold, S.1
Blau, N.2
Opladen, T.3
-
42
-
-
18344395924
-
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
-
Ramaekers V.T., Rothenberg S.P., Sequeira J.M., et al. Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. NEngl J Med 2005, 352:1985-1991.
-
(2005)
NEngl J Med
, vol.352
, pp. 1985-1991
-
-
Ramaekers, V.T.1
Rothenberg, S.P.2
Sequeira, J.M.3
-
43
-
-
49949152394
-
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
-
Moretti P., Peters S.U., del Gaudio D., et al. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. JAutism Dev Disord 2008, 38:1170-1177.
-
(2008)
JAutism Dev Disord
, vol.38
, pp. 1170-1177
-
-
Moretti, P.1
Peters, S.U.2
del Gaudio, D.3
-
44
-
-
33745599658
-
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome
-
Sikora D.M., Pettit-Kekel K., Penfield J., et al. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A 2006, 140:1511-1518.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1511-1518
-
-
Sikora, D.M.1
Pettit-Kekel, K.2
Penfield, J.3
-
46
-
-
79952419593
-
The neurobiology of lipid metabolism in autism spectrum disorders
-
Tamiji J., Crawford D.A. The neurobiology of lipid metabolism in autism spectrum disorders. Neurosignals 2010, 18:98-112.
-
(2010)
Neurosignals
, vol.18
, pp. 98-112
-
-
Tamiji, J.1
Crawford, D.A.2
-
47
-
-
14044258489
-
Mitochondrial dysfunction in autism spectrum disorders: a population-based study
-
Oliveira G., Diogo L., Grazina M., et al. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol 2005, 47:185-189.
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 185-189
-
-
Oliveira, G.1
Diogo, L.2
Grazina, M.3
-
48
-
-
56849108261
-
Mitochondrial disease in autism spectrum disorder patients: a cohort analysis
-
Weissman J.R., Kelley R.I., Bauman M.L., et al. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS One 2008, 11:e3815.
-
(2008)
PLoS One
, vol.11
-
-
Weissman, J.R.1
Kelley, R.I.2
Bauman, M.L.3
-
49
-
-
77956249894
-
Autism and mitochondrial disease
-
Haas R.H. Autism and mitochondrial disease. Dev Disabil Res Rev 2010, 16:144-153.
-
(2010)
Dev Disabil Res Rev
, vol.16
, pp. 144-153
-
-
Haas, R.H.1
-
50
-
-
79954614882
-
Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders
-
Frye R.E., Rossignol D.A. Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders. Pediatr Res 2011, 69:41R-47R.
-
(2011)
Pediatr Res
, vol.69
-
-
Frye, R.E.1
Rossignol, D.A.2
-
51
-
-
79959895924
-
Therapy for mitochondrial disorders: little proof, high research activity, some promise
-
Suomalainen A. Therapy for mitochondrial disorders: little proof, high research activity, some promise. Sem Fetal Neonatal Med 2011, 16:236-240.
-
(2011)
Sem Fetal Neonatal Med
, vol.16
, pp. 236-240
-
-
Suomalainen, A.1
-
52
-
-
77952032690
-
Consensus statement: chromosomal microarray is a first tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller D.T., Adam M.P., Aradhya S., et al. Consensus statement: chromosomal microarray is a first tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010, 86:749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
53
-
-
67349101629
-
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
-
Van der Aa N., Rooms L., Vandeweyer G., et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009, 52:94-100.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 94-100
-
-
Van der Aa, N.1
Rooms, L.2
Vandeweyer, G.3
-
54
-
-
79951572831
-
Haploinsufficiency of Gtf2i, a gene deleted in Williams syndrome, leads to increases in social interactions
-
Sakurai T., Dorr N.P., Takahashi N., et al. Haploinsufficiency of Gtf2i, a gene deleted in Williams syndrome, leads to increases in social interactions. Autism Res 2011, 4:28-39.
-
(2011)
Autism Res
, vol.4
, pp. 28-39
-
-
Sakurai, T.1
Dorr, N.P.2
Takahashi, N.3
-
55
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
Sanders S.J., Ercan-Sencicek A.G., Hus V., et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011, 70:863-885.
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
-
56
-
-
78249281977
-
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
-
SGENE Consortium
-
Moreno-De-Luca D., SGENE Consortium, Mulle J.G., et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010, 87:618-630.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 618-630
-
-
Moreno-De-Luca, D.1
Mulle, J.G.2
-
57
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy S.E., Makarov V., Kirov G., et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009, 41:1223-1227.
-
(2009)
Nat Genet
, vol.41
, pp. 1223-1227
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
-
58
-
-
65949085347
-
Microdeletion duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
-
Miller D.T., Shen Y., Weiss L.A., et al. Microdeletion duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. JMed Genet 2009, 46:242-248.
-
(2009)
JMed Genet
, vol.46
, pp. 242-248
-
-
Miller, D.T.1
Shen, Y.2
Weiss, L.A.3
-
59
-
-
68049129849
-
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
-
Van Bon B.W., Mefford H.C., Menten B., et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. JMed Genet 2009, 46:511-523.
-
(2009)
JMed Genet
, vol.46
, pp. 511-523
-
-
Van Bon, B.W.1
Mefford, H.C.2
Menten, B.3
-
60
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H., Rujescu D., Cichon S., et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455:178-179.
-
(2008)
Nature
, vol.455
, pp. 178-179
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
-
61
-
-
36349022568
-
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay
-
Cusmano-Ozog K., Manning M.A., Hoyme H.E. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet 2007, 145C:393-398.
-
(2007)
Am J Med Genet C Semin Med Genet
, vol.145 C
, pp. 393-398
-
-
Cusmano-Ozog, K.1
Manning, M.A.2
Hoyme, H.E.3
-
62
-
-
77649209695
-
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
-
Dhar S.U., del Gaudio D., German J.R., et al. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A 2010, 152A:573-581.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 573-581
-
-
Dhar, S.U.1
del Gaudio, D.2
German, J.R.3
-
63
-
-
84858789450
-
Neurofibromatosis 1
-
(internet), University of WA, Seattle (WA), R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.)
-
Friedman J.M. Neurofibromatosis 1. Genereviews 2009, (internet), University of WA, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
-
(2009)
Genereviews
-
-
Friedman, J.M.1
-
64
-
-
0024154605
-
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, MD, USA, July 13-15, 1987
-
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, MD, USA, July 13-15, 1987. Neurofibromatosis 1988, 1:172-178.
-
(1988)
Neurofibromatosis
, vol.1
, pp. 172-178
-
-
-
65
-
-
0034094731
-
Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children
-
DeBella K., Szudek J., Friedman J.M. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000, 105:608-614.
-
(2000)
Pediatrics
, vol.105
, pp. 608-614
-
-
DeBella, K.1
Szudek, J.2
Friedman, J.M.3
-
66
-
-
33644700178
-
Factors associated with age of diagnosis among children with autism spectrum disorders
-
Mandell D.S., Novak M.M., Zubritsky C.D. Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics 2005, 116:1480-1486.
-
(2005)
Pediatrics
, vol.116
, pp. 1480-1486
-
-
Mandell, D.S.1
Novak, M.M.2
Zubritsky, C.D.3
-
67
-
-
0032453497
-
Autism and tuberous sclerosis
-
Smalley S.L. Autism and tuberous sclerosis. JAutism Dev Disord 1998, 28:407-414.
-
(1998)
JAutism Dev Disord
, vol.28
, pp. 407-414
-
-
Smalley, S.L.1
-
68
-
-
79953225914
-
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
-
Numis A.L., Major P., Montenegro M.A., et al. Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology 2011, 76:981-987.
-
(2011)
Neurology
, vol.76
, pp. 981-987
-
-
Numis, A.L.1
Major, P.2
Montenegro, M.A.3
-
69
-
-
0030807941
-
Autism and associated medical disorders in a French epidemiological survey
-
Fombonne E., Du Mazaubrun C., Cans C., et al. Autism and associated medical disorders in a French epidemiological survey. JAm Acad Child Adolesc Psychiatry 1997, 36:1561-1569.
-
(1997)
JAm Acad Child Adolesc Psychiatry
, vol.36
, pp. 1561-1569
-
-
Fombonne, E.1
Du Mazaubrun, C.2
Cans, C.3
-
70
-
-
8844231735
-
Diagnosis of tuberous sclerosis complex
-
Roach E.S., Sparagnana S.P. Diagnosis of tuberous sclerosis complex. JChild Neurol 2004, 19:643-649.
-
(2004)
JChild Neurol
, vol.19
, pp. 643-649
-
-
Roach, E.S.1
Sparagnana, S.P.2
-
71
-
-
84966398584
-
Myotonic dystrophy type 1
-
(internet), University of WA, Seattle (WA), R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.)
-
Bird T.D. Myotonic dystrophy type 1. Genereviews 2011, (internet), University of WA, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
-
(2011)
Genereviews
-
-
Bird, T.D.1
-
72
-
-
51449093262
-
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms
-
Ekstrom A.B., Hakenas-Plate L., Samuelsson L., et al. Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. Am J Med Genet B Neuropsychiatr Genet 2008, 147B:918-926.
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 918-926
-
-
Ekstrom, A.B.1
Hakenas-Plate, L.2
Samuelsson, L.3
-
73
-
-
0029790129
-
Asperger syndrome associated with Steinert's myotonic dystrophy
-
Blondis T.A., Cook E., Koza-Taylor P., et al. Asperger syndrome associated with Steinert's myotonic dystrophy. Dev Med Child Neurol 1996, 38:840-847.
-
(1996)
Dev Med Child Neurol
, vol.38
, pp. 840-847
-
-
Blondis, T.A.1
Cook, E.2
Koza-Taylor, P.3
-
74
-
-
70350519151
-
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
-
Coffee B., Keith K., Albizua I., et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 2009, 85:503-514.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 503-514
-
-
Coffee, B.1
Keith, K.2
Albizua, I.3
-
75
-
-
0030862260
-
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics
-
Curry C.J., Stevenson R.E., Aughton D., et al. Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997, 12:468-477.
-
(1997)
Am J Med Genet
, vol.12
, pp. 468-477
-
-
Curry, C.J.1
Stevenson, R.E.2
Aughton, D.3
-
76
-
-
33749465589
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
-
Rauch A., Hoyer J., Guth S., et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006, 140:2063-2074.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2063-2074
-
-
Rauch, A.1
Hoyer, J.2
Guth, S.3
-
77
-
-
33748295575
-
Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP
-
Hatton D.D., Sideris J., Skinner M., et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A 2006, 140:1804-1813.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1804-1813
-
-
Hatton, D.D.1
Sideris, J.2
Skinner, M.3
-
78
-
-
80955178868
-
FMR1 premutation and full mutation molecular mechanisms related to autism
-
Hagerman R., Au J., Hagerman P. FMR1 premutation and full mutation molecular mechanisms related to autism. JNeurodev Disord 2011, 3(3):211-224. 10.1007/s11689-011-9084-5.
-
(2011)
JNeurodev Disord
, vol.3
, Issue.3
, pp. 211-224
-
-
Hagerman, R.1
Au, J.2
Hagerman, P.3
-
79
-
-
33750283784
-
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
-
Farzin F., Perry H., Hessl D., et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. JDev Behav Pediatr 2006, 27:S137-S143.
-
(2006)
JDev Behav Pediatr
, vol.27
-
-
Farzin, F.1
Perry, H.2
Hessl, D.3
-
80
-
-
49449089705
-
Co-occurring conditions associated with FMR1 gene variations; findings from a national parent survey
-
Bailey D.B., Raspa M., Olmsted M., et al. Co-occurring conditions associated with FMR1 gene variations; findings from a national parent survey. Am J Med Genet A 2008, 146:2060-2069.
-
(2008)
Am J Med Genet A
, vol.146
, pp. 2060-2069
-
-
Bailey, D.B.1
Raspa, M.2
Olmsted, M.3
-
81
-
-
79959981749
-
Risk factors for autism: translating genomic discoveries into diagnostics
-
Scherer S.W., Dawson G. Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet 2011, 130:123-148.
-
(2011)
Hum Genet
, vol.130
, pp. 123-148
-
-
Scherer, S.W.1
Dawson, G.2
-
82
-
-
36048931014
-
Council on Children with Disabilities. Identification and evaluation of children with autism spectrum disorders
-
Johnson C.P., Myers S.M. Council on Children with Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007, 120:1183-1215.
-
(2007)
Pediatrics
, vol.120
, pp. 1183-1215
-
-
Johnson, C.P.1
Myers, S.M.2
-
83
-
-
0033837083
-
Practice parameter: screening and diagnosis of autism: report of the quality standards subcommittee of the American Academy of Neurology and the Child Neurology Society
-
Filipek P.A., Accardo P.J., Ashwal S., et al. Practice parameter: screening and diagnosis of autism: report of the quality standards subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 2000, 44:468-479.
-
(2000)
Neurology
, vol.44
, pp. 468-479
-
-
Filipek, P.A.1
Accardo, P.J.2
Ashwal, S.3
-
84
-
-
0033045298
-
Appropriate investigations for clinical care versus research in children with autism
-
Rapin I. Appropriate investigations for clinical care versus research in children with autism. Brain Dev 1999, 21:152-156.
-
(1999)
Brain Dev
, vol.21
, pp. 152-156
-
-
Rapin, I.1
-
85
-
-
84863983315
-
Genetic testing in renal disease
-
[Epub ahead of print]
-
Bockenhauer D., Medlar A.J., Ashton E., et al. Genetic testing in renal disease. Pediatr Nephrol 2011, [Epub ahead of print]. 10.1007/s00467-011-1865-2.
-
(2011)
Pediatr Nephrol
-
-
Bockenhauer, D.1
Medlar, A.J.2
Ashton, E.3
-
86
-
-
33745924410
-
Genetic diagnosis and testing in clinical practice
-
McPherson E. Genetic diagnosis and testing in clinical practice. Clin Med Res 2006, 4:123-129.
-
(2006)
Clin Med Res
, vol.4
, pp. 123-129
-
-
McPherson, E.1
|