-
1
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
D.T. Miller, M.P. Adam, S. Aradhya, L.G. Biesecker, A.R. Brothman, N.P. Carter Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 2010 749 764
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
Carter, N.P.6
-
2
-
-
20144387269
-
Molecular and clinical analyses of Greig cephalopolysyndactyly and pallister-hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations
-
DOI 10.1086/429346
-
J.J. Johnston, I. Olivos-Glander, C. Killoran, E. Elson, J.T. Turner, K.F. Peters Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations Am J Hum Genet 76 2005 609 622 (Pubitemid 40432168)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.4
, pp. 609-622
-
-
Johnston, J.J.1
Olivos-Glander, I.2
Killoran, C.3
Elson, E.4
Turner, J.T.5
Peters, K.F.6
Abbott, M.H.7
Aughton, D.J.8
Aylsworth, A.S.9
Bamshad, M.J.10
Booth, C.11
Curry, C.J.12
David, A.13
Dinulos, M.B.14
Flannery, D.B.15
Fox, M.A.16
Graham Jr., J.M.17
Grange, D.K.18
Guttmacher, A.E.19
Hannibal, M.C.20
Henn, W.21
Hennekam, R.C.M.22
Holmes, L.B.23
Hoyme, H.E.24
Leppig, K.A.25
Lin, A.E.26
MacLeod, P.27
Manchester, D.K.28
Marcelis, C.29
Mazzanti, L.30
McCann, E.31
McDonald, M.T.32
Mendelsohn, N.J.33
Moeschler, J.B.34
Moghaddam, B.35
Neri, G.36
Newbury-Ecob, R.37
Pagon, R.A.38
Phillips III, J.A.39
Sadler, L.S.40
Stoler, J.M.41
Tilstra, D.42
Vockley, C.M.W.43
Zackai, E.H.44
Zadeh, T.M.45
Brueton, L.46
Black, G.C.M.47
Biesecker, L.G.48
more..
-
3
-
-
33846858227
-
Genetics of cavernous angiomas
-
DOI 10.1016/S1474-4422(07)70053-4, PII S1474442207700534
-
P. Labauge, C. Denier, F. Bergametti, E. Tournier-Lasserve Genetics of cavernous angiomas Lancet Neurol 6 2007 237 244 (Pubitemid 46228079)
-
(2007)
Lancet Neurology
, vol.6
, Issue.3
, pp. 237-244
-
-
Labauge, P.1
Denier, C.2
Bergametti, F.3
Tournier-Lasserve, E.4
-
4
-
-
0033058487
-
Molecular genetics of maturity-onset diabetes of the young
-
DOI 10.1016/S1043-2760(98)00134-9, PII S1043276098001349
-
P. Froguel, G. Velho Molecular genetics of maturity-onset diabetes of the young Trends Endocrinol Metab 10 1999 142 146 (Pubitemid 29284348)
-
(1999)
Trends in Endocrinology and Metabolism
, vol.10
, Issue.4
, pp. 142-146
-
-
Froguel, P.1
Velho, G.2
-
5
-
-
27144554025
-
Perturbations in the development of infants with Rett disorder and the implications for early diagnosis
-
B. Burford Perturbations in the development of infants with Rett disorder and the implications for early diagnosis Brain Dev 27 Suppl 1 2005 S3 S7
-
(2005)
Brain Dev
, vol.27
, Issue.SUPPL 1
-
-
Burford, B.1
-
6
-
-
0037002625
-
An update on clinically applicable diagnostic criteria in Rett syndrome
-
Comments to Rett syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
-
B. Hagberg, F. Hanefeld, A. Percy, O. Skjeldal An update on clinically applicable diagnostic criteria in Rett syndrome Comments to Rett syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 Eur J Paediatr Neurol 6 2002 293 297
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
7
-
-
38849085346
-
Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
-
DOI 10.1542/peds.2007-0929
-
A. Battaglia, H.E. Hoyme, B. Dallapiccola, E. Zackai, L. Hudgins, D. McDonald-McGinn Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation Pediatrics 121 2008 404 410 (Pubitemid 351198468)
-
(2008)
Pediatrics
, vol.121
, Issue.2
, pp. 404-410
-
-
Battaglia, A.1
Hoyme, H.E.2
Dallapiccola, B.3
Zackai, E.4
Hudgins, L.5
McDonald-McGinn, D.6
Bahi-Buisson, N.7
Romano, C.8
Williams, C.A.9
Braley, L.L.10
Zuberi, S.M.11
Carey, J.C.12
-
8
-
-
77951759477
-
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
-
D. Mitter, B.D. Chiaie, H.J. Ldecke, G. Gillessen-Kaesbach, A. Bohring, J. Kohlhase Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1 Am J Med Genet A 152A 2010 1213 1224
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1213-1224
-
-
Mitter, D.1
Chiaie, B.D.2
Ldecke, H.J.3
Gillessen-Kaesbach, G.4
Bohring, A.5
Kohlhase, J.6
-
9
-
-
79551650497
-
2q31.1 microdeletion syndrome: Redefining the associated clinical phenotype
-
B. Dimitrov, I. Balikova, T. de Ravel, H. Van Esch, M. De Smedt, E. Baten 2q31.1 microdeletion syndrome: Redefining the associated clinical phenotype J Med Genet 48 2011 98 104
-
(2011)
J Med Genet
, vol.48
, pp. 98-104
-
-
Dimitrov, B.1
Balikova, I.2
De Ravel, T.3
Van Esch, H.4
De Smedt, M.5
Baten, E.6
-
10
-
-
33847321093
-
Array comparative genomic hybridization for diagnosis of developmental delay - An exploratory cost-consequences analysis
-
DOI 10.1111/j.1399-0004.2007.00756.x
-
W.G. Newman, S. Hamilton, J. Ayres, N. Sanghera, A. Smith, L. Gaunt Array comparative genomic hybridization for diagnosis of developmental delay: An exploratory cost-consequences analysis Clin Genet 71 2007 254 259 (Pubitemid 46322664)
-
(2007)
Clinical Genetics
, vol.71
, Issue.3
, pp. 254-259
-
-
Newman, W.G.1
Hamilton, S.2
Ayres, J.3
Sanghera, N.4
Smith, A.5
Gaunt, L.6
Davies, L.M.7
Clayton-Smith, J.8
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