-
1
-
-
34250006238
-
Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature
-
DOI 10.1097/MCD.0b013e3281e668d5, PII 0001960520070700000001
-
Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS. Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature. Clin Dysmorphol 2007;16:135-40. (Pubitemid 46884169)
-
(2007)
Clinical Dysmorphology
, vol.16
, Issue.3
, pp. 135-140
-
-
Zherebtsov, M.M.1
Klein, R.T.2
Aviv, H.3
Toruner, G.A.4
Hanna, N.N.5
Brooks, S.S.6
-
2
-
-
70350617664
-
Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
-
Buysse K, Delle Chiaie B, Van Coster R, Loeys B, De Paepe A, Mortier G, Speleman F, Menten B. Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience. Eur J Med Genet 2009;52:398-403.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 398-403
-
-
Buysse, K.1
Delle Chiaie, B.2
Van Coster, R.3
Loeys, B.4
De Paepe, A.5
Mortier, G.6
Speleman, F.7
Menten, B.8
-
3
-
-
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
-
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;43:625-33.
-
(2006)
J Med Genet
, vol.43
, 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..
-
4
-
-
64149099583
-
DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources
-
Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 2009;84:524-33.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton, S.4
Corpas, M.5
Rajan, D.6
Van Vooren, S.7
Moreau, Y.8
Pettett, R.M.9
Carter, N.P.10
-
5
-
-
0017756843
-
Congenital anomalies including the VATER association in a patient with a del(6)q deletion
-
McNeal RM, Skoglund RR, Francke U. Congenital anomalies including the VATER association in a patient with del(6)q deletion. J Pediatr 1977;91:957-60. (Pubitemid 8242167)
-
(1977)
Journal of Pediatrics
, vol.91
, Issue.6
, pp. 957-960
-
-
McNeal, R.M.1
Skoglund, R.R.2
Francke, U.3
-
6
-
-
0022001559
-
Deletions of the long arm of chromosome 6: Two new cases and review of the literature
-
Young RS, Fidone GS, Reider-Garcia PA, Hansen KL, McCombs JL, Moore CM. Deletions of the long arm of chromosome 6: two new cases and review of the literature. Am J Med Genet 1985;20:21-9.
-
(1985)
Am J Med Genet
, vol.20
, pp. 21-29
-
-
Young, R.S.1
Fidone, G.S.2
Reider-Garcia, P.A.3
Hansen, K.L.4
McCombs, J.L.5
Moore, C.M.6
-
7
-
-
0029965977
-
Interstitial deletion (6)q13q15
-
Gershoni-Baruch R, Mandel H, Bar El H, Bar-Nizan N, Borochowitz Z, Dar H. Interstitial deletion (6)q13q15. Am J Med Genet 1996;62:345-7.
-
(1996)
Am J Med Genet
, vol.62
, pp. 345-347
-
-
Gershoni-Baruch, R.1
Mandel, H.2
Bar El, H.3
Bar-Nizan, N.4
Borochowitz, Z.5
Dar, H.6
-
8
-
-
0030010258
-
Monosomy 6q1: Syndrome delineation
-
Romie SS, Hartsfield JK Jr, Sutcliffe MJ, Dumont DP, Kousseff BG. Monosomy 6q1: syndrome delineation. Am J Med Genet 1996;62:105-8.
-
(1996)
Am J Med Genet
, vol.62
, pp. 105-108
-
-
Romie, S.S.1
Hartsfield Jr., J.K.2
Sutcliffe, M.J.3
Dumont, D.P.4
Kousseff, B.G.5
-
9
-
-
0030906366
-
New insights into the phenotypes of 6q deletions
-
Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. New insights into the phenotypes of 6q deletions. Am J Med Genet 1997;70:377-86.
-
(1997)
Am J Med Genet
, vol.70
, pp. 377-386
-
-
Hopkin, R.J.1
Schorry, E.2
Bofinger, M.3
Milatovich, A.4
Stern, H.J.5
Jayne, C.6
Saal, H.M.7
-
11
-
-
27144550216
-
Proximal 6q interstitial deletion without severe mental retardation
-
Myers SM, Challman TD. Proximal 6q interstitial deletion without severe mental retardation. Genet Couns 2005;16:269-76.
-
(2005)
Genet Couns
, vol.16
, pp. 269-276
-
-
Myers, S.M.1
Challman, T.D.2
-
12
-
-
58149116748
-
Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms
-
Lespinasse J, Gimelli S, Bena F, Antonarakis SE, Ansermet F, Paoloni-Giacobino A. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms. Eur J Med Genet 2009;52:49-52.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 49-52
-
-
Lespinasse, J.1
Gimelli, S.2
Bena, F.3
Antonarakis, S.E.4
Ansermet, F.5
Paoloni-Giacobino, A.6
-
13
-
-
58149302840
-
Zebrafish collagen XII is present in embryonic connective tissue sheaths (fascia) and basement membranes
-
Bader HL, Keene DR, Charvet B, Veit G, Driever W, Koch M, Ruggiero F. Zebrafish collagen XII is present in embryonic connective tissue sheaths (fascia) and basement membranes. Matrix Biol 2009;28:32-43.
-
(2009)
Matrix Biol
, vol.28
, pp. 32-43
-
-
Bader, H.L.1
Keene, D.R.2
Charvet, B.3
Veit, G.4
Driever, W.5
Koch, M.6
Ruggiero, F.7
-
14
-
-
77957779695
-
The association between the COL12A1 gene and anterior cruciate ligament ruptures
-
Jun 22. [Epub ahead of print].
-
Posthumus M, September AV, O'Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M. The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Med 2010 Jun 22. [Epub ahead of print].
-
(2010)
Br J Sports Med
-
-
Posthumus, M.1
September, A.V.2
O'Cuinneagain, D.3
Van Der Merwe, W.4
Schwellnus, M.P.5
Collins, M.6
-
15
-
-
0034303612
-
Neuronal KCNQ potassium channels: Physiology and role in disease
-
Jentsch TJ. Neuronal KCNQ potassium channels: physiology and role in disease. Nat Rev Neurosci 2000;1:21-30.
-
(2000)
Nat Rev Neurosci
, vol.1
, pp. 21-30
-
-
Jentsch, T.J.1
-
16
-
-
0032706624
-
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
-
Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet 1999;23:462-5.
-
(1999)
Nat Genet
, vol.23
, pp. 462-465
-
-
Verheijen, F.W.1
Verbeek, E.2
Aula, N.3
Beerens, C.E.4
Havelaar, A.C.5
Joosse, M.6
Peltonen, L.7
Aula, P.8
Galjaard, H.9
Van Der Spek, P.J.10
Mancini, G.M.11
-
17
-
-
7444254932
-
1B receptors: From protein to physiological function and behavior
-
DOI 10.1016/j.neubiorev.2004.08.008, PII S0149763404000880
-
Sari Y. Serotonin1B receptors: from protein to physiological function and behaviour. Neurosci Biobehav Rev 2004;28:565-82. (Pubitemid 39446482)
-
(2004)
Neuroscience and Biobehavioral Reviews
, vol.28
, Issue.6
, pp. 565-582
-
-
Sari, Y.1
-
18
-
-
0036302046
-
Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone
-
DOI 10.1038/ncb808
-
Nagano T, Yoneda T, Hatanaka Y, Kubota C, Murakami F, Sato M. Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone. Nat Cell Biol 2002;4:495-501. (Pubitemid 34752434)
-
(2002)
Nature Cell Biology
, vol.4
, Issue.7
, pp. 495-501
-
-
Nagano, T.1
Yoneda, T.2
Hatanaka, Y.3
Kubota, C.4
Murakami, F.5
Sato, M.6
|