-
1
-
-
0030991994
-
Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992
-
Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ 1997 Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am J Med Genet 71:29-32
-
(1997)
Am J Med Genet
, vol.71
, pp. 29-32
-
-
Roberts, H.E.1
Moore, C.A.2
Fernhoff, P.M.3
Brown, A.L.4
Khoury, M.J.5
-
2
-
-
0033306083
-
A search for the possible molecular mechanisms of TD: Sex ratios and associated malformations
-
Devos H, Rodd C, Gagné N, Laframboise R, Van Vliet G 1999 A search for the possible molecular mechanisms of TD: sex ratios and associated malformations. J Clin Endocrinol Metab 84:2502-2506
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2502-2506
-
-
Devos, H.1
Rodd, C.2
Gagné, N.3
Laframboise, R.4
Van Vliet, G.5
-
3
-
-
0028266582
-
Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ
-
Grüters A, Finke R, Krude H, Meinhold H 1994 Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ. Horm Res 41:3-9
-
(1994)
Horm Res
, vol.41
, pp. 3-9
-
-
Grüters, A.1
Finke, R.2
Krude, H.3
Meinhold, H.4
-
4
-
-
0036033616
-
Long-term consequences of congenital hypothyroidism in the era of screening programmes
-
Grüters A, Jenner A, Krude H 2002 Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Pract Res Clin Endocrinol Metab 16:369-382
-
(2002)
Best Pract Res Clin Endocrinol Metab
, vol.16
, pp. 369-382
-
-
Grüters, A.1
Jenner, A.2
Krude, H.3
-
5
-
-
0002563737
-
Thyroid disorders
-
Sciver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw Hill, Inc.
-
Vassart G, Dumont JE, Refetoff S 1995 Thyroid disorders. In: Sciver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, Inc.; 2917-2918
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2917-2918
-
-
Vassart, G.1
Dumont, J.E.2
Refetoff, S.3
-
6
-
-
0034999523
-
Nineteen years of national screening for congenital hypothyroidism: Familial cases with TD suggest the involvement of genetic factors
-
Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J 2001 Nineteen years of national screening for congenital hypothyroidism: familial cases with TD suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009-2014
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2009-2014
-
-
Castanet, M.1
Polak, M.2
Bonaïti-Pellié, C.3
Lyonnet, S.4
Czernichow, P.5
Léger, J.6
-
7
-
-
0026904349
-
Birth prevalence of primary congenital hypothyroidism by sex and ethnicity
-
Lorey FW, Cunningham GC 1992 Birth prevalence of primary congenital hypothyroidism by sex and ethnicity. Hum Biol 64:531-538
-
(1992)
Hum Biol
, vol.64
, pp. 531-538
-
-
Lorey, F.W.1
Cunningham, G.C.2
-
8
-
-
0036739991
-
Discordance of monozygotic twins for TD: Implications for screening and for molecular pathophysiology
-
Perry R, Heinrichs C, Bourdoux P, Khoury K, Szöts F, Dussault JH, Vassart G, Van Vliet G 2002 Discordance of monozygotic twins for TD: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 87:4072-4077
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4072-4077
-
-
Perry, R.1
Heinrichs, C.2
Bourdoux, P.3
Khoury, K.4
Szöts, F.5
Dussault, J.H.6
Vassart, G.7
Van Vliet, G.8
-
9
-
-
34547733565
-
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Quebec
-
Deladoëy J, Bélanger N, Van Vliet G 2007 Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Quebec. J Clin Endocrinol Metab 92:3158-3161
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3158-3161
-
-
Deladoëy, J.1
Bélanger, N.2
Van Vliet, G.3
-
10
-
-
34249071606
-
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: Identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism
-
Al Taji E, Biebermann H, Límanová Z, Hníková O, Zikmund J, Dame C, Grüters A, Lebl J, Krude H 2007 Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur J Endocrinol 156:521-529
-
(2007)
Eur J Endocrinol
, vol.156
, pp. 521-529
-
-
Al Taji, E.1
Biebermann, H.2
Límanová, Z.3
Hníková, O.4
Zikmund, J.5
Dame, C.6
Grüters, A.7
Lebl, J.8
Krude, H.9
-
11
-
-
0031820442
-
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
-
Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK 1998 Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 19:399-401
-
(1998)
Nat Genet
, vol.19
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
Crisp, M.S.4
John, R.5
Lazarus, J.H.6
Ludgate, M.7
Chatterjee, V.K.8
-
12
-
-
17344366813
-
A mouse model for hereditary thyroid dysgenesis and cleft palate
-
De Felice M, Ovitt C, Biffali E, Rodriguez-Mallon A, Arra C, Anastassiadis K, Macchia PE, Mattei MG, Mariano A, Schöler H, Macchia V, Di Lauro R 1998 A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 19:395-398
-
(1998)
Nat Genet
, vol.19
, pp. 395-398
-
-
De Felice, M.1
Ovitt, C.2
Biffali, E.3
Rodriguez-Mallon, A.4
Arra, C.5
Anastassiadis, K.6
Macchia, P.E.7
Mattei, M.G.8
Mariano, A.9
Schöler, H.10
Macchia, V.11
Di Lauro, R.12
-
13
-
-
33646034932
-
Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis
-
Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE 2006 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 91:1428-1433
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1428-1433
-
-
Dentice, M.1
Cordeddu, V.2
Rosica, A.3
Ferrara, A.M.4
Santarpia, L.5
Salvatore, D.6
Chiovato, L.7
Perri, A.8
Moschini, L.9
Fazzini, C.10
Olivieri, A.11
Costa, P.12
Stoppioni, V.13
Baserga, M.14
De Felice, M.15
Sorcini, M.16
Fenzi, G.17
Di Lauro, R.18
Tartaglia, M.19
Macchia, P.E.20
more..
-
14
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
Devriendt K, Vanhole C, Matthijs G, de Zegher F 1998 Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 338:1317-1318
-
(1998)
N Engl J Med
, vol.338
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
De Zegher, F.4
-
15
-
-
0036181474
-
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
-
Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 109:475-480
-
(2002)
J Clin Invest
, vol.109
, pp. 475-480
-
-
Krude, H.1
Schütz, B.2
Biebermann, H.3
Von Moers, A.4
Schnabel, D.5
Neitzel, H.6
Tönnies, H.7
Weise, D.8
Lafferty, A.9
Schwarz, S.10
DeFelice, M.11
Von Deimling, A.12
Van Landeghem, F.13
DiLauro, R.14
Grüters, A.15
-
16
-
-
17344374131
-
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
-
Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Grüters A, Busslinger M, Di Lauro R 1998 PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19:83-86
-
(1998)
Nat Genet
, vol.19
, pp. 83-86
-
-
Macchia, P.E.1
Lapi, P.2
Krude, H.3
Pirro, M.T.4
Missero, C.5
Chiovato, L.6
Souabni, A.7
Baserga, M.8
Tassi, V.9
Pinchera, A.10
Fenzi, G.11
Grüters, A.12
Busslinger, M.13
Di Lauro, R.14
-
17
-
-
0037180569
-
Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland
-
Postiglione MP, Parlato R, Rodriguez-Mallon A, Rosica A, Mithbaokar P, Maresca M, Marians RC, Davies TF, Zannini MS, De Felice M, Di Lauro R 2002 Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland. Proc Natl Acad Sci USA 99:15462-15467
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 15462-15467
-
-
Postiglione, M.P.1
Parlato, R.2
Rodriguez-Mallon, A.3
Rosica, A.4
Mithbaokar, P.5
Maresca, M.6
Marians, R.C.7
Davies, T.F.8
Zannini, M.S.9
De Felice, M.10
Di Lauro, R.11
-
18
-
-
0030983833
-
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
-
Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A 1997 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 82:3471-3480
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3471-3480
-
-
Biebermann, H.1
Schöneberg, T.2
Krude, H.3
Schultz, G.4
Gudermann, T.5
Grüters, A.6
-
19
-
-
56049097929
-
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
-
Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R 2008 High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet 45:704-709
-
(2008)
J Med Genet
, vol.45
, pp. 704-709
-
-
Erdogan, F.1
Larsen, L.A.2
Zhang, L.3
Tümer, Z.4
Tommerup, N.5
Chen, W.6
Jacobsen, J.R.7
Schubert, M.8
Jurkatis, J.9
Tzschach, A.10
Ropers, H.H.11
Ullmann, R.12
-
20
-
-
35348827304
-
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
-
Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C 2007 Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81:1057-1069
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1057-1069
-
-
Mefford, H.C.1
Clauin, S.2
Sharp, A.J.3
Moller, R.S.4
Ullmann, R.5
Kapur, R.6
Pinkel, D.7
Cooper, G.M.8
Ventura, M.9
Ropers, H.H.10
Tommerup, N.11
Eichler, E.E.12
Bellanne-Chantelot, C.13
-
21
-
-
33751503669
-
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
-
Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Müller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R 2006 Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 115:247-253
-
(2006)
Cytogenet Genome Res
, vol.115
, pp. 247-253
-
-
Erdogan, F.1
Chen, W.2
Kirchhoff, M.3
Kalscheuer, V.M.4
Hultschig, C.5
Müller, I.6
Schulz, R.7
Menzel, C.8
Bryndorf, T.9
Ropers, H.H.10
Ullmann, R.11
-
22
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG 1998 High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.L.8
Chen, C.9
Zhai, Y.10
Dairkee, S.H.11
Ljung, B.M.12
Gray, J.W.13
Albertson, D.G.14
-
23
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOPPCR amplification of BAC and PAC clones
-
Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP 2003 DNA microarrays for comparative genomic hybridization based on DOPPCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36:361-374
-
(2003)
Genes Chromosomes Cancer
, vol.36
, pp. 361-374
-
-
Fiegler, H.1
Carr, P.2
Douglas, E.J.3
Burford, D.C.4
Hunt, S.5
Scott, C.E.6
Smith, J.7
Vetrie, D.8
Gorman, P.9
Tomlinson, I.P.10
Carter, N.P.11
-
24
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL 2004 A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
DeLeeuw, R.J.4
Chi, B.5
Coe, B.P.6
Snijders, A.7
Albertson, D.G.8
Pinkel, D.9
Marra, M.A.10
Ling, V.11
MacAulay, C.12
Lam, W.L.13
-
25
-
-
3142698256
-
A set of BAC clones spanning the human genome
-
Krzywinski M, Bosdet I, Smailus D, Chiu R, Mathewson C, Wye N, Barber S, Brown-John M, Chan S, Chand S, Cloutier A, Girn N, Lee D, Masson A, Mayo M, Olson T, Pandoh P, Prabhu AL, Schoenmakers E, Tsai M, Albertson D, Lam W, Choy CO, Osoegawa K, Zhao S, de Jong PJ, Schein J, Jones S, Marra MA 2004 A set of BAC clones spanning the human genome. Nucleic Acids Res 32:3651-3660
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 3651-3660
-
-
Krzywinski, M.1
Bosdet, I.2
Smailus, D.3
Chiu, R.4
Mathewson, C.5
Wye, N.6
Barber, S.7
Brown-John, M.8
Chan, S.9
Chand, S.10
Cloutier, A.11
Girn, N.12
Lee, D.13
Masson, A.14
Mayo, M.15
Olson, T.16
Pandoh, P.17
Prabhu, A.L.18
Schoenmakers, E.19
Tsai, M.20
Albertson, D.21
Lam, W.22
Choy, C.O.23
Osoegawa, K.24
Zhao, S.25
De Jong, P.J.26
Schein, J.27
Jones, S.28
Marra, M.A.29
more..
-
26
-
-
22844435668
-
CGHPRO - A comprehensive data analysis tool for array CGH
-
Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R 2005 CGHPRO - a comprehensive data analysis tool for array CGH. BMC Bioinformatics 6:85
-
(2005)
BMC Bioinformatics
, vol.6
, pp. 85
-
-
Chen, W.1
Erdogan, F.2
Ropers, H.H.3
Lenzner, S.4
Ullmann, R.5
-
27
-
-
69749121852
-
Highresolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
-
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H 2009 Highresolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19:1682-1690
-
(2009)
Genome Res
, vol.19
, pp. 1682-1690
-
-
Shaikh, T.H.1
Gai, X.2
Perin, J.C.3
Glessner, J.T.4
Xie, H.5
Murphy, K.6
O'Hara, R.7
Casalunovo, T.8
Conlin, L.K.9
D'Arcy, M.10
Frackelton, E.C.11
Geiger, E.A.12
Haldeman-Englert, C.13
Imielinski, M.14
Kim, C.E.15
Medne, L.16
Annaiah, K.17
Bradfield, J.P.18
Dabaghyan, E.19
Eckert, A.20
Onyiah, C.C.21
Ostapenko, S.22
Otieno, F.G.23
Santa, E.24
Shaner, J.L.25
Skraban, R.26
Smith, R.M.27
Elia, J.28
Goldmuntz, E.29
Spinner, N.B.30
Zackai, E.H.31
Chiavacci, R.M.32
Grundmeier, R.33
Rappaport, E.F.34
Grant, S.F.35
White, P.S.36
Hakonarson, H.37
more..
-
28
-
-
77950461601
-
2010 Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME 2010 Origins and functional impact of copy number variation in the human genome. Nature 464:704-712
-
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
Fitzgerald, T.11
Hu, M.12
Ihm, C.H.13
Kristiansson, K.14
Macarthur, D.G.15
Macdonald, J.R.16
Onyiah, I.17
Pang, A.W.18
Robson, S.19
Stirrups, K.20
Valsesia, A.21
Walter, K.22
Wei, J.23
Tyler-Smith, C.24
Carter, N.P.25
Lee, C.26
Scherer, S.W.27
Hurles, M.E.28
more..
-
29
-
-
0242490780
-
Cytoscape: A software environment for integrated models of biomolecular interaction networks
-
Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, Ramage D, Amin N, Schwikowski B, Ideker T 2003 Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res 13:2498-2504
-
(2003)
Genome Res
, vol.13
, pp. 2498-2504
-
-
Shannon, P.1
Markiel, A.2
Ozier, O.3
Baliga, N.S.4
Wang, J.T.5
Ramage, D.6
Amin, N.7
Schwikowski, B.8
Ideker, T.9
-
30
-
-
0242607574
-
Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
-
Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM 2003 Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73:1027-1040
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1027-1040
-
-
Ensenauer, R.E.1
Adeyinka, A.2
Flynn, H.C.3
Michels, V.V.4
Lindor, N.M.5
Dawson, D.B.6
Thorland, E.C.7
Lorentz, C.P.8
Goldstein, J.L.9
McDonald, M.T.10
Smith, W.E.11
Simon-Fayard, E.12
Alexander, A.A.13
Kulharya, A.S.14
Ketterling, R.P.15
Clark, R.D.16
Jalal, S.M.17
-
31
-
-
20244383760
-
Microduplication and triplication of 22q11.2: A highly variable syndrome
-
Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE 2005 Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 76:865-876
-
(2005)
Am J Hum Genet
, vol.76
, pp. 865-876
-
-
Yobb, T.M.1
Somerville, M.J.2
Willatt, L.3
Firth, H.V.4
Harrison, K.5
MacKenzie, J.6
Gallo, N.7
Morrow, B.E.8
Shaffer, L.G.9
Babcock, M.10
Chernos, J.11
Bernier, F.12
Sprysak, K.13
Christiansen, J.14
Haase, S.15
Elyas, B.16
Lilley, M.17
Bamforth, S.18
McDermid, H.E.19
-
32
-
-
33947546526
-
Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy
-
Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, Lenzi A, Foresta C 2007 Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 92:762-770
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 762-770
-
-
Ferlin, A.1
Arredi, B.2
Speltra, E.3
Cazzadore, C.4
Selice, R.5
Garolla, A.6
Lenzi, A.7
Foresta, C.8
-
33
-
-
34447318057
-
Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: Cytogenetic and molecular analysis
-
Velissariou V, Sismani C, Christopoulou S, Kaminopetros P, Hatzaki A, Evangelidou P, Koumbaris G, Bartsocas CS, Stylianidou G, Skordis N, Diakoumakos A, Patsalis PC 2007 Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis. Eur J Med Genet 50:291-300
-
(2007)
Eur J Med Genet
, vol.50
, pp. 291-300
-
-
Velissariou, V.1
Sismani, C.2
Christopoulou, S.3
Kaminopetros, P.4
Hatzaki, A.5
Evangelidou, P.6
Koumbaris, G.7
Bartsocas, C.S.8
Stylianidou, G.9
Skordis, N.10
Diakoumakos, A.11
Patsalis, P.C.12
-
34
-
-
40849109768
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
-
Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, de Ståhl TD, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP 2008 Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82:763-771
-
(2008)
Am J Hum Genet
, vol.82
, pp. 763-771
-
-
Bruder, C.E.1
Piotrowski, A.2
Gijsbers, A.A.3
Andersson, R.4
Erickson, S.5
De Ståhl, T.D.6
Menzel, U.7
Sandgren, J.8
Von Tell, D.9
Poplawski, A.10
Crowley, M.11
Crasto, C.12
Partridge, E.C.13
Tiwari, H.14
Allison, D.B.15
Komorowski, J.16
Van Ommen, G.J.17
Boomsma, D.I.18
Pedersen, N.L.19
Den Dunnen, J.T.20
Wirdefeldt, K.21
Dumanski, J.P.22
more..
-
35
-
-
33847296702
-
The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning
-
Fagman H, Liao J, Westerlund J, Andersson L, Morrow BE, Nilsson M 2007 The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning. Hum Mol Genet 16:276-285
-
(2007)
Hum Mol Genet
, vol.16
, pp. 276-285
-
-
Fagman, H.1
Liao, J.2
Westerlund, J.3
Andersson, L.4
Morrow, B.E.5
Nilsson, M.6
-
36
-
-
0031893397
-
Thyroid abnormalities as a feature of DiGeorge syndrome: A patient report and review of the literature
-
Scuccimarri R, Rodd C 1998 Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. J Pediatr Endocrinol Metab 11:273-276
-
(1998)
J Pediatr Endocrinol Metab
, vol.11
, pp. 273-276
-
-
Scuccimarri, R.1
Rodd, C.2
-
37
-
-
42149193191
-
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
-
Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A 2008 Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10:267-277
-
(2008)
Genet Med
, vol.10
, pp. 267-277
-
-
Ou, Z.1
Berg, J.S.2
Yonath, H.3
Enciso, V.B.4
Miller, D.T.5
Picker, J.6
Lenzi, T.7
Keegan, C.E.8
Sutton, V.R.9
Belmont, J.10
Chinault, A.C.11
Lupski, J.R.12
Cheung, S.W.13
Roeder, E.14
Patel, A.15
-
38
-
-
56649099144
-
Clinical variability of the 22q11.2 duplication syndrome
-
Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC 2008 Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet 51:501-510
-
(2008)
Eur J Med Genet
, vol.51
, pp. 501-510
-
-
Wentzel, C.1
Fernström, M.2
Ohrner, Y.3
Annerén, G.4
Thuresson, A.C.5
|