-
3
-
-
0037432002
-
Practice parameter: Evaluation of the child with global developmental delay: Report of the quality standards subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
-
Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, Majnemer A, Noetzel M, Sheth RD: Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003, 60:367-380. (Pubitemid 36188229)
-
(2003)
Neurology
, vol.60
, Issue.3
, pp. 367-380
-
-
Shevell, M.1
Ashwal, S.2
Donley, D.3
Flint, J.4
Gingold, M.5
Hirtz, D.6
Majnemer, A.7
Noetzel, M.8
Sheth, R.D.9
-
4
-
-
33745314874
-
American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays
-
Moeschler JB, Shevell M: American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006, 117:2304-2316.
-
(2006)
Pediatrics
, vol.117
, pp. 2304-2316
-
-
Moeschler, J.B.1
Shevell, M.2
-
5
-
-
0036948248
-
The epidemiology of mental retardation: Challenges and opportunities in the new millennium
-
DOI 10.1002/mrdd.10031
-
Leonard H, Wen X: The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002, 8:117-134. (Pubitemid 36378154)
-
(2002)
Mental Retardation and Developmental Disabilities Research Reviews
, vol.8
, Issue.3
, pp. 117-134
-
-
Leonard, H.1
Wen, X.2
-
6
-
-
11144354654
-
Genomic Imbalances in mental retardation
-
Kriek M, White SJ, Bourma MC, Dauwerse HG, Hansson KBM, Nijhuis JV, Bakker B, van-Ommen GJB, den Dunnen JT, Breuning M: Genomic Imbalances in mental retardation. J Med Genet 2004, 41:249-255.
-
(2004)
J Med Genet
, vol.41
, pp. 249-255
-
-
Kriek, M.1
White, S.J.2
Bourma, M.C.3
Dauwerse, H.G.4
Hansson, K.B.M.5
Nijhuis, J.V.6
Bakker, B.7
Van-Ommen, G.J.B.8
Den Dunnen, J.T.9
Breuning, M.10
-
7
-
-
33747054494
-
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports
-
DOI 10.1136/jmg.2005.039453
-
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR: Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006, 43:625-633. (Pubitemid 44214899)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.8
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
Buysse, K.4
Vandesompele, J.5
Melotte, C.6
De Ravel, T.7
Van Vooren, S.8
Balikova, I.9
Backx, L.10
Janssens, S.11
De Paepe, A.12
De Moor, B.13
Moreau, Y.14
Marynen, P.15
Fryns, J.-P.16
Mortier, G.17
Devriendt, K.18
Speleman, F.19
Vermeesch, J.R.20
more..
-
8
-
-
0028798545
-
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
-
Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE: The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995, 9:132-140.
-
(1995)
Nat Genet
, vol.9
, pp. 132-140
-
-
Flint, J.1
Wilkie, A.O.2
Buckle, V.J.3
Winter, R.M.4
Holland, A.J.5
McDermid, H.E.6
-
9
-
-
0029736830
-
The genetics of mental retardation
-
Flint J, Wilkie AO: The genetics of mental retardation. Br Med Bull 1996, 52:453-464.
-
(1996)
Br Med Bull
, vol.52
, pp. 453-464
-
-
Flint, J.1
Wilkie, A.O.2
-
10
-
-
0038392953
-
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
-
DOI 10.1016/S0959-437X(03)00049-2
-
Flint J, Knight S: The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 2003, 13:310-316. (Pubitemid 36645096)
-
(2003)
Current Opinion in Genetics and Development
, vol.13
, Issue.3
, pp. 310-316
-
-
Flint, J.1
Knight, S.2
-
11
-
-
0038207082
-
Telomeres: A diagnosis at the end of the chromosomes
-
de Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C: Telomeres: a diagnosis at the end of the chromosomes. J Med Genet 2003, 40:385-398.
-
(2003)
J Med Genet
, vol.40
, pp. 385-398
-
-
De Vries, B.B.1
Winter, R.2
Schinzel, A.3
Van Ravenswaaij-Arts, C.4
-
12
-
-
29544447524
-
FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype
-
DOI 10.1016/j.ejmg.2005.05.002, PII S176972120500090X
-
Baroncini A, Rivieri F, Capucci A, Croci G, Franchi F, Sensi A, Battaglia P, Aiello V, Calzolari E: FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype. Eur J Med Genet 2005, 48:388-396. (Pubitemid 43015010)
-
(2005)
European Journal of Medical Genetics
, vol.48
, Issue.4
, pp. 388-396
-
-
Baroncini, A.1
Rivieri, F.2
Capucci, A.3
Croci, G.4
Franchi, F.5
Sensi, A.6
Battaglia, P.7
Aiello, V.8
Calzolari, E.9
-
13
-
-
0030862260
-
Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics
-
Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, Graham JM jr, Jones MC, Kaback MM, Moeschler J, Schaffer GB, Schwartz S, Tarleton J, Opitz J: Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997, 72:468-477.
-
(1997)
Am J Med Genet
, vol.72
, pp. 468-477
-
-
Curry, C.J.1
Stevenson, R.E.2
Aughton, D.3
Byrne, J.4
Carey, J.C.5
Cassidy, S.6
Cunniff, C.7
Graham Jr., J.M.8
Jones, M.C.9
Kaback, M.M.10
Moeschler, J.11
Schaffer, G.B.12
Schwartz, S.13
Tarleton, J.14
Opitz, J.15
-
14
-
-
0036467131
-
The end of the beginning of chromosome ends
-
Biesecker LG: The end of the beginning of chromosome ends. Am J Med Genet 2002, 107:263-266.
-
(2002)
Am J Med Genet
, vol.107
, pp. 263-266
-
-
Biesecker, L.G.1
-
15
-
-
33644944837
-
High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation
-
Lam AC, Lam ST, Lai KK, Tong TM, Chau TC: High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation. Clin Biochem 2006, 39:196-202.
-
(2006)
Clin Biochem
, vol.39
, pp. 196-202
-
-
Lam, A.C.1
Lam, S.T.2
Lai, K.K.3
Tong, T.M.4
Chau, T.C.5
-
16
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001, 38:145-150. (Pubitemid 32250864)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.3
, pp. 145-150
-
-
De Vries, B.B.A.1
White, S.M.2
Knight, S.J.L.3
Regan, R.4
Homfray, T.5
Young, I.D.6
Super, M.7
McKeown, C.8
Splitt, M.9
Quarrell, O.W.J.10
Trainer, A.H.11
Niermeijer, M.F.12
Malcolm, S.13
Flint, J.14
Hurst, J.A.15
Winter, R.M.16
-
17
-
-
22244471387
-
Del 1p36 syndrome: A newly emerging clinical entity
-
DOI 10.1016/j.braindev.2004.03.011, PII S0387760405000380, Chromosomal Aberration and Epileptic Syndrome, Part 2
-
Battaglia A: Del 1p36 syndrome: a newly emerging clinical entity. Brain Dev 2005, 27:358-361. (Pubitemid 40991757)
-
(2005)
Brain and Development
, vol.27
, Issue.5
, pp. 358-361
-
-
Battaglia, A.1
-
18
-
-
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
-
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC: Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008, 121:404-410. (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
-
19
-
-
33645560213
-
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
-
Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M: Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. Am J Med Genet 2006, 140:892-894.
-
(2006)
Am J Med Genet
, vol.140
, pp. 892-894
-
-
Ferrero, G.B.1
Belligni, E.2
Sorasio, L.3
Delmonaco, A.G.4
Oggero, R.5
Faravelli, F.6
Pierluigi, M.7
Silengo, M.8
-
20
-
-
0034046292
-
Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
-
Knight SJ, Flint J: Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 2000, 37:401-409. (Pubitemid 30386730)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.6
, pp. 401-409
-
-
Knight, S.J.L.1
Flint, J.2
-
21
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
DOI 10.1136/jmg.2005.036350
-
Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL: Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006, 43:478-479. (Pubitemid 43927321)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.6
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
Eash, D.6
Ledbetter, D.H.7
Martin, C.L.8
-
22
-
-
22244483786
-
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
-
DOI 10.1016/j.braindev.2005.02.004, PII S0387760405000434, Chromosomal Aberration and Epileptic Syndrome, Part 2
-
Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y: Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. Brain Dev 2005, 27:378-382. (Pubitemid 40991761)
-
(2005)
Brain and Development
, vol.27
, Issue.5
, pp. 378-382
-
-
Kurosawa, K.1
Kawame, H.2
Okamoto, N.3
Ochiai, Y.4
Akatsuka, A.5
Kobayashi, M.6
Shimohira, M.7
Mizuno, S.8
Wada, K.9
Fukushima, Y.10
Kawawaki, H.11
Yamamoto, T.12
Masuno, M.13
Imaizumi, K.14
Kuroki, Y.15
-
23
-
-
39749180472
-
Spectrum of epilepsy in terminal 1p36 deletion syndrome
-
DOI 10.1111/j.1528-1167.2007.01424.x
-
Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A: Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2008, 49:509-515. (Pubitemid 351294538)
-
(2008)
Epilepsia
, vol.49
, Issue.3
, pp. 509-515
-
-
Bahi-Buisson, N.1
Guttierrez-Delicado, E.2
Soufflet, C.3
Rio, M.4
Cormier Daire, V.5
Lacombe, D.6
Heron, D.7
Verloes, A.8
Zuberi, S.9
Burglen, L.10
Afenjar, A.11
Moutard, M.L.12
Edery, P.13
Novelli, A.14
Bernardini, L.15
Dulac, O.16
Nabbout, R.17
Plouin, P.18
Battaglia, A.19
-
24
-
-
33644856895
-
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome
-
DOI 10.1002/ajmg.a.31123
-
Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB: Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. Am J Med Genet 2006, 140:618-623. (Pubitemid 43376299)
-
(2006)
American Journal of Medical Genetics
, vol.140 A
, Issue.6
, pp. 618-623
-
-
Kleefstra, T.1
Koolen, D.A.2
Nillesen, W.M.3
De Leeuw, N.4
Hamel, B.C.J.5
Veltman, J.A.6
Sistermans, E.A.7
Van Bokhoven, H.8
Van Ravenswaay, C.9
De Vries, B.B.A.10
-
25
-
-
0037374847
-
Cryptic terminal deletion of chromosome 9q34: A novel cause of syndromic obesity in childhood? [3]
-
Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois MC, Romana S, Vekemans M, Munnich A, Colleaux L: Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? J Med Genet 2003, 40:300-303. (Pubitemid 36506446)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.4
, pp. 300-303
-
-
Cormier-Daire, V.1
Molinari, F.2
Rio, M.3
Raoul, O.4
De Blois, M.-C.5
Romana, S.6
Vekemans, M.7
Munnich, A.8
Colleaux, L.9
-
26
-
-
3342894655
-
Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
-
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID: Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet 2004, 128:340-351. (Pubitemid 38988635)
-
(2004)
American Journal of Medical Genetics
, vol.128 A
, Issue.4
, pp. 340-351
-
-
Stewart, D.R.1
Huang, A.2
Faravelli, F.3
Anderlid, B.-M.4
Medne, L.5
Ciprero, K.6
Kaur, M.7
Rossi, E.8
Tenconi, R.9
Nordenskjold, M.10
Gripp, K.W.11
Nicholson, L.12
Meschino, W.S.13
Capua, E.14
Quarrell, O.W.J.15
Flint, J.16
Irons, M.17
Giampietro, P.F.18
Schowalter, D.B.19
Zaleski, C.A.20
Malacarne, M.21
Zackai, E.H.22
Spinner, N.B.23
Krantz, I.D.24
more..
-
27
-
-
0020023935
-
AUGMENTATION D'ACTIVITE de L'ADENINE PHOSPHORIBOSYL TRANSFERASE CHEZ UN ENFANT TRISOMIQUE 16q22.2;16qter PAR TRANSLOCATION t(16;21)(q22.2;q22.2)pat
-
Rethoré MO, Lafourcade J, Couturier J, Harpey JP, Hamet M, Engler R, Alcindor LG, Lejeune J: Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2-16qter due to malsegregation of a t(16;21)(q22.2;q22.2)pat. Ann Génét 1982, 25:36-42. (Pubitemid 12187068)
-
(1982)
Annales de Genetique
, vol.25
, Issue.1
, pp. 36-42
-
-
Rethore, M.O.1
Lafourcade, J.2
Couturier, J.3
-
28
-
-
18744367241
-
Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature
-
Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP: Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature. Am J Med Genet 2002, 113:339-345.
-
(2002)
Am J Med Genet
, vol.113
, pp. 339-345
-
-
Brisset, S.1
Joly, G.2
Ozilou, C.3
Lapierre, J.M.4
Gosset, P.5
Lelorc'H, M.6
Raoul, O.7
Turleau, C.8
Vekemans, M.9
Romana, S.P.10
-
29
-
-
14744274432
-
Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1>qter) and partial monosomy 20q (20q13.3>qter)
-
DOI 10.1002/pd.1083
-
Chen CP, Lin SP, Lin CC, Li YC, Chern SR, Chen WM, Lee CC, Hsieh LJ, Wang W: Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter). Prenat Diagn 2005, 25:112-118. (Pubitemid 40327389)
-
(2005)
Prenatal Diagnosis
, vol.25
, Issue.2
, pp. 112-118
-
-
Chen, C.-P.1
Lin, S.-P.2
Lin, C.-C.3
Li, Y.-C.4
Chern, S.-R.5
Chen, W.-M.6
Lee, C.-C.7
Hsieh, L.-J.8
Wang, W.9
-
30
-
-
0021180688
-
Partial trisomy 16 as a result of familial 16;20 translocation
-
Davison EV, Beesley JR: Partial trisomy 16 as a result of familial 16;20 translocation. J Med Genet 1984, 21:384-386. (Pubitemid 14049047)
-
(1984)
Journal of Medical Genetics
, vol.21
, Issue.5
, pp. 384-386
-
-
Davison, E.V.1
Beesley, J.R.2
-
31
-
-
0019784069
-
UN NOUVEAU SYNDROME: DEL(20) (q13>qter) LOCALISATION SEGMENTAIRE de GENE de L'ADENOSINE DEAMINASE (ADA)
-
Fraisse J, Bertheas MF, Frere F, Lauras B, Rolland MO, Brizard CP: Un nouveau syndrome: del(20)(q13-qter). Localisation segmentaire de gene de l'adenosine deaminase (ADA). Ann Génét 1981, 24:216-219. (Pubitemid 12239358)
-
(1981)
Annales de Genetique
, vol.24
, Issue.4
, pp. 216-219
-
-
Fraisse, J.1
Bertheas, M.F.2
Frere, F.3
-
32
-
-
0023221897
-
Ring 20 chromosome phenotype
-
Porfirio B, Valorani MG, Giannotti A, Sabetta G, Dallapiccola B: Ring 20 chromosome phenotype. J Med Genet 1987, 24:375-377.
-
(1987)
J Med Genet
, vol.24
, pp. 375-377
-
-
Porfirio, B.1
Valorani, M.G.2
Giannotti, A.3
Sabetta, G.4
Dallapiccola, B.5
-
33
-
-
0027457133
-
Chromosome 20 long arm deletion in an elderly malformed man
-
Shabtai F, Ben-Sasson E, Arieli S, Grinblat J: Chromosome 20+ long arm deletion in an elderly malformed man. J Med Genet 1993, 30:171-173. (Pubitemid 23078400)
-
(1993)
Journal of Medical Genetics
, vol.30
, Issue.2
, pp. 171-173
-
-
Shabtai, F.1
Ben-Sasson, E.2
Arieli, S.3
Grinblat, J.4
-
34
-
-
0034722839
-
Unbalanced 4;6 translocation and progressive renal disease
-
DOI 10.1002/1096-8628(20001127)95:3<275::AID-AJMG15>3.0.CO;2-X
-
Pierpont ME, Hentges AS, Gears LJ, Hirsch B, Sinaiko A: Unbalanced 4;6 translocation and progressive renal disease. Am J Med Genet 2000, 95:275-280. (Pubitemid 30823740)
-
(2000)
American Journal of Medical Genetics
, vol.95
, Issue.3
, pp. 275-280
-
-
Pierpont, M.E.M.1
Hentges, A.S.2
Gears, L.J.3
Hirsch, B.4
Sinaiko, A.5
-
35
-
-
0034979654
-
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations [9]
-
Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R: Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001, 38:417-420. (Pubitemid 32554316)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.6
, pp. 417-420
-
-
Rossi, E.1
Piccini, F.2
Zollino, M.3
Neri, G.4
Caselli, D.5
Tenconi, R.6
Castellan, C.7
Carrozzo, R.8
Danesino, C.9
Zuffardi, O.10
Ragusa, A.11
Castiglia, L.12
Galesi, O.13
Greco, D.14
Romano, C.15
Pierluigi, M.16
Perfumo, C.17
Di Rocco, M.18
Faravelli, F.19
Bricarelli, F.D.20
Bonaglia, M.C.21
Bedeschi, M.F.22
Borgatti, R.23
more..
-
36
-
-
18244368230
-
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
-
DOI 10.1002/ajmg.a.30695
-
van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF: Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet 2005, 135:91-95. (Pubitemid 40627672)
-
(2005)
American Journal of Medical Genetics
, vol.135 A
, Issue.1
, pp. 91-95
-
-
Van Bever, Y.1
Rooms, L.2
Laridon, A.3
Reyniers, E.4
Van Luijk, R.5
Scheers, S.6
Wauters, J.7
Kooy, R.F.8
-
37
-
-
33847375501
-
Delineation of the cryptic 1qter deletion phenotype
-
DOI 10.1002/ajmg.a.31611
-
Merritt JL, Zou Y, Jalal SM, Michels VV: Delineation of the cryptic 1qter deletion phenotype. Am J Med Genet 2007, 143:599-603. (Pubitemid 46348903)
-
(2007)
American Journal of Medical Genetics, Part a
, vol.143
, Issue.6
, pp. 599-603
-
-
Merritt II, J.L.1
Zou, Y.2
Jalal, S.M.3
Michels, V.V.4
-
38
-
-
45249089227
-
Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis
-
van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, vanDuyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB: Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis. J Med Genet 2008, 45:346-354.
-
(2008)
J Med Genet
, vol.45
, pp. 346-354
-
-
Van Bon, B.W.1
Koolen, D.A.2
Borgatti, R.3
Magee, A.4
Garcia-Minaur, S.5
Rooms, L.6
Reardon, W.7
Zollino, M.8
Bonaglia, M.C.9
De Gregori, M.10
Novara, F.11
Grasso, R.12
Ciccone, R.13
Vanduyvenvoorde, H.A.14
Aalbers, A.M.15
Guerrini, R.16
Fazzi, E.17
Nillesen, W.M.18
McCullough, S.19
Kant, S.G.20
Marcelis, C.L.21
Pfundt, R.22
De Leeuw, N.23
Smeets, D.24
Sistermans, E.A.25
Wit, J.M.26
Hamel, B.C.27
Brunner, H.G.28
Kooy, F.29
Zuffardi, O.30
De Vries, B.B.31
more..
-
39
-
-
0032859540
-
Sacral dysgenesis associated with terminal deletion of chromosome 7q: A report of two families
-
DOI 10.1007/s004310051238
-
Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W: Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. Eur J Pediatr 1999, 158:902-905. (Pubitemid 29482511)
-
(1999)
European Journal of Pediatrics
, vol.158
, Issue.11
, pp. 902-905
-
-
Wang, J.1
Spitz, L.2
Hayward, R.3
Kiely, E.4
Hall, C.M.5
O'Donoghue, D.P.6
Palmer, R.7
Goodman, F.R.8
Scambler, P.J.9
Winter, R.M.10
Reardon, W.11
-
40
-
-
16444366378
-
De novo deletion 7q36 resulting from a distal 7q/8q translocation: Phenotypic expression and comparison to the literature
-
Lukusa T, Vermeesch JR, Fryns JP: De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature. Genet Couns 2005, 16:1-15. (Pubitemid 40477847)
-
(2005)
Genetic Counseling
, vol.16
, Issue.1
, pp. 1-15
-
-
Lukusa, T.1
Vermeesch, J.R.2
Fryns, J.P.3
-
41
-
-
33646053465
-
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-qter) and partial monosomy 21q (21q22.2-qter)
-
Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W: Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-qter) and partial monosomy 21q (21q22.2-qter). Prenat Diagn 2006, 26:313-320.
-
(2006)
Prenat Diagn
, vol.26
, pp. 313-320
-
-
Chen, C.P.1
Chern, S.R.2
Lin, C.C.3
Wang, T.H.4
Li, Y.C.5
Hsieh, L.J.6
Lee, C.C.7
Hua, H.M.8
Wang, W.9
-
42
-
-
34247860748
-
Cryptic duplication of 12q24.33 → qter in a child with Angelman Syndrome - Simultaneous occurrence of two unrelated cytogenetic events
-
DOI 10.1002/ajmg.a.31682
-
Sathanoori M, Hu J, Murthy V, Byrnes A, Vockley J, Safier R, Bedoyan J, Jalal SM, Huber H, Surti U: Cryptic duplication of 12q24.33→qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events. Am J Med Genet 2007, 143:985-994. (Pubitemid 46700906)
-
(2007)
American Journal of Medical Genetics, Part a
, vol.143
, Issue.9
, pp. 985-994
-
-
Sathanoori, M.1
Hu, J.2
Murthy, V.3
Byrnes, A.4
Vockley, J.5
Safier, R.6
Bedoyan, J.7
Jalal, S.M.8
Huber, H.9
Surti, U.10
-
43
-
-
34948815565
-
Subtelomeric imbalances in phenotypically normal individuals
-
DOI 10.1002/humu.20537
-
Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, Ende J van Den, Devriendt K, Fryns JP, Speleman F, Vermeesch JR: Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat 2007, 28:958-967. (Pubitemid 47519388)
-
(2007)
Human Mutation
, vol.28
, Issue.10
, pp. 958-967
-
-
Balikova, I.1
Menten, B.2
De Ravel, T.3
Le Caignec, C.4
Thienpont, B.5
Urbina, M.6
Doco-Fenzy, M.7
De Rademaeker, M.8
Mortier, G.9
Kooy, F.10
Van Den Ende, J.11
Devriendt, K.12
Fryns, J.-P.13
Speleman, F.14
Vermeesch, J.R.15
-
44
-
-
46949111857
-
Simultaneous partial monosomy 5p and trisomy 10q
-
Elbistan M: Simultaneous partial monosomy 5p and trisomy 10q. Ind J Ped 2004, 71:1041-1047.
-
(2004)
Ind J Ped
, vol.71
, pp. 1041-1047
-
-
Elbistan, M.1
-
45
-
-
3242736790
-
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism
-
DOI 10.1111/j.0009-9163.2004.00270.x
-
Novelli A, Ceccarini C, Bernardini L, Zuccarrello D, Caputo V, Digiglio MC, Mingarelli R, Dallapiccola B: High frequency of subtelomeric rearrangements in a cohort of 92 patinents with severe mental retardation and dysmorphism. Clin Genet 2004, 66:30-38. (Pubitemid 38960818)
-
(2004)
Clinical Genetics
, vol.66
, Issue.1
, pp. 30-38
-
-
Novelli, A.1
Ceccarini, C.2
Bernardini, L.3
Zuccarello, D.4
Caputo, V.5
Digilio, M.C.6
Mingarelli, R.7
Dallapiccola, B.8
-
46
-
-
0033614044
-
De novo partial duplications 1p: Report of two new cases and review
-
DOI 10.1002/(SICI)1096-8628(19990129)82:3<261::AID-AJMG13>3.0.CO;2- L
-
Garcia-Heras J, Corley N, Garcia M F, Kukolich M K, Smith K G, Day D W: De novo partial duplications 1p: Report of two new cases and review. Am J Med Genet 1999, 82:261-264. (Pubitemid 29078816)
-
(1999)
American Journal of Medical Genetics
, vol.82
, Issue.3
, pp. 261-264
-
-
Garcia-Heras, J.1
Corley, N.2
Garcia, M.F.3
Kukolich, M.K.4
Smith, K.G.5
Day, D.W.6
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