-
1
-
-
20144386602
-
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
-
Bond J, Roberts E, Springell K, Lizarraga S, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SMR, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG. 2005. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37:353-355.
-
(2005)
Nat Genet
, vol.37
, pp. 353-355
-
-
Bond, J.1
Roberts, E.2
Springell, K.3
Lizarraga, S.4
Scott, S.5
Higgins, J.6
Hampshire, D.J.7
Morrison, E.E.8
Leal, G.F.9
Silva, E.O.10
Costa, S.M.R.11
Baralle, D.12
Raponi, M.13
Karbani, G.14
Rashid, Y.15
Jafri, H.16
Bennett, C.17
Corry, P.18
Walsh, C.A.19
Woods, C.G.20
more..
-
2
-
-
0017863076
-
A homologous tandem translocation [45,XX,-13,+t(13;13)(q12;q34)]
-
Cohen MM, Rosen Y, Gadoth N, Tal A. 1978. A homologous tandem translocation [45,XX,-13,+t(13;13)(q12;q34)]. Cytogenet Cell Genet 20:155-159.
-
(1978)
Cytogenet Cell Genet
, vol.20
, pp. 155-159
-
-
Cohen, M.M.1
Rosen, Y.2
Gadoth, N.3
Tal, A.4
-
3
-
-
0026569471
-
Unbalanced 13;18 translocation and Williams syndrome
-
Colley A, Thakker Y, Ward H, Donnai D. 1992. Unbalanced 13;18 translocation and Williams syndrome. J Med Genet 29:63-65.
-
(1992)
J Med Genet
, vol.29
, pp. 63-65
-
-
Colley, A.1
Thakker, Y.2
Ward, H.3
Donnai, D.4
-
4
-
-
0036135524
-
Maternal complex chromosome rearrangement ascertained through a del(13)(q12.1q14.1) detected in her mildly affected daughter
-
Drummond-Borg M, Kulharya AS, Tonk V, Garcia-Heras J. 2002. Maternal complex chromosome rearrangement ascertained through a del(13)(q12.1q14.1) detected in her mildly affected daughter. Am J Med Genet 107:61-63.
-
(2002)
Am J Med Genet
, vol.107
, pp. 61-63
-
-
Drummond-Borg, M.1
Kulharya, A.S.2
Tonk, V.3
Garcia-Heras, J.4
-
5
-
-
0031909941
-
Gastroesophaeal reflux in infants and children
-
Faubion WA Jr, Zein NN. 1998. Gastroesophaeal reflux in infants and children. Mayo Clin Proc 73:166-173.
-
(1998)
Mayo Clin Proc
, vol.73
, pp. 166-173
-
-
Faubion Jr, W.A.1
Zein, N.N.2
-
8
-
-
33748656504
-
A novel deletion in CENPJ gene in a Pakistani family with Autosomal recessive primary microcephaly
-
Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W. 2006. A novel deletion in CENPJ gene in a Pakistani family with Autosomal recessive primary microcephaly. J Hum Genet 51:760-764.
-
(2006)
J Hum Genet
, vol.51
, pp. 760-764
-
-
Gul, A.1
Hassan, M.J.2
Hussain, S.3
Raza, S.I.4
Chishti, M.S.5
Ahmad, W.6
-
9
-
-
0343962635
-
Mapping of a gene for severe pediatric gastroesophageal reflux tochromosome 13q14
-
Hu FZ, Preston RA, Post JC, White GJ, Kikuchi LW, Wang X, Leal SM, Levenstien MA, Ott J, Self TW, Allen G, Stiffler RS,McGraw C, Pulsifer-Anderson EA, Ehrlich GD. 2000a Mapping of a gene for severe pediatric gastroesophageal reflux tochromosome 13q14. JAMA 284:325-334.
-
(2000)
JAMA
, vol.284
, pp. 325-334
-
-
Hu, F.Z.1
Preston, R.A.2
Post, J.C.3
White, G.J.4
Kikuchi, L.W.5
Wang, X.6
Leal, S.M.7
Levenstien, M.A.8
Ott, J.9
Self, T.W.10
Allen, G.11
Stiffler, R.S.12
McGraw, C.13
Pulsifer-Anderson, E.A.14
Ehrlich, G.D.15
-
10
-
-
0034534303
-
Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene
-
Hu FZ, Post JC, Johnson S, Ehrlich GD, Preston RA. 2000b. Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene. Hum Genet 107:519-525.
-
(2000)
Hum Genet
, vol.107
, pp. 519-525
-
-
Hu, F.Z.1
Post, J.C.2
Johnson, S.3
Ehrlich, G.D.4
Preston, R.A.5
-
11
-
-
2942752025
-
Fine mapping a gene for pediatric gastroesophageal reflux on human chromosome 13q14
-
Hu FZ, Donfack J, Ahmed A, Dopico R, Johnson S, Post JC, Ehrlich GD, Preston RA. 2004. Fine mapping a gene for pediatric gastroesophageal reflux on human chromosome 13q14. Hum Genet 114:562-572.
-
(2004)
Hum Genet
, vol.114
, pp. 562-572
-
-
Hu, F.Z.1
Donfack, J.2
Ahmed, A.3
Dopico, R.4
Johnson, S.5
Post, J.C.6
Ehrlich, G.D.7
Preston, R.A.8
-
12
-
-
0033580405
-
Symptomatic gastroesophageal reflux as a risk factor for esophageal adenocarcinoma
-
Lagergren J, Bergstrom R, Lindgren A, Nyren O. 1999. Symptomatic gastroesophageal reflux as a risk factor for esophageal adenocarcinoma. N Engl J Med 340:825-831.
-
(1999)
N Engl J Med
, vol.340
, pp. 825-831
-
-
Lagergren, J.1
Bergstrom, R.2
Lindgren, A.3
Nyren, O.4
-
13
-
-
0026683012
-
Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: Characterization by fluorescence in situ hybridization and DNA analysis
-
Mangelschots K, Van Roy B, Speleman F, van Roy N, Gheuens J, Beuten J, Buntinx I, van Thienen MN, Willekens H, Dumon J. 1992. Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: Characterization by fluorescence in situ hybridization and DNA analysis. Hum Genet 89:407-413.
-
(1992)
Hum Genet
, vol.89
, pp. 407-413
-
-
Mangelschots, K.1
Van Roy, B.2
Speleman, F.3
van Roy, N.4
Gheuens, J.5
Beuten, J.6
Buntinx, I.7
van Thienen, M.N.8
Willekens, H.9
Dumon, J.10
-
14
-
-
0000708879
-
Gastroesophageal reflux
-
Wyllie R, Hyams JS, editors, Philadelphia: WB Saunders. pp
-
Orenstein SR. 1993. Gastroesophageal reflux. In: Wyllie R, Hyams JS, editors. Pediatric gastrointestinal disease. Philadelphia: WB Saunders. pp 337-369.
-
(1993)
Pediatric gastrointestinal disease
, pp. 337-369
-
-
Orenstein, S.R.1
-
15
-
-
0031463490
-
Infantile reflux: Different from adult reflux
-
Orenstein SR. 1997. Infantile reflux: Different from adult reflux. Am J Med 103:114S-119S.
-
(1997)
Am J Med
, vol.103
-
-
Orenstein, S.R.1
-
16
-
-
0017802080
-
Partial monosomy 13 and 21 due to a familial 13/21 translocation
-
Otto PG, Toledo S, Richieri-Costa A, Otto PA, Vianna-Morgante AM, Kasahara S. 1978. Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum Genet 41:243-250.
-
(1978)
Hum Genet
, vol.41
, pp. 243-250
-
-
Otto, P.G.1
Toledo, S.2
Richieri-Costa, A.3
Otto, P.A.4
Vianna-Morgante, A.M.5
Kasahara, S.6
-
17
-
-
0023425149
-
Fetal karyotype following ascertainment of fetal anomalies by ultrasound
-
Palmer CG, Miles JH, Howard-Peebles PN. 1987. Fetal karyotype following ascertainment of fetal anomalies by ultrasound. Prenat Diagn 7:551-555.
-
(1987)
Prenat Diagn
, vol.7
, pp. 551-555
-
-
Palmer, C.G.1
Miles, J.H.2
Howard-Peebles, P.N.3
-
18
-
-
0018781941
-
Is G banding sufficient for the localization of breakpoints in a translocation?
-
Prieto F, Badia L, Asensi F. 1979. Is G banding sufficient for the localization of breakpoints in a translocation? Hum Genet 47:343-344.
-
(1979)
Hum Genet
, vol.47
, pp. 343-344
-
-
Prieto, F.1
Badia, L.2
Asensi, F.3
-
20
-
-
0025884458
-
Deletion of chromosome 13 in Moebius syndrome
-
Slee JJ, Smart RD, Viljoen DL. 1991. Deletion of chromosome 13 in Moebius syndrome. J Med Genet 28:413-414.
-
(1991)
J Med Genet
, vol.28
, pp. 413-414
-
-
Slee, J.J.1
Smart, R.D.2
Viljoen, D.L.3
-
21
-
-
0037810302
-
Molecular genetic delineation of chromosome 13q12-q13 in a patient with autism and auditory processing deficits
-
Smith M, Woodroffe A, Smith R, Holguin S, Martinez J, Filipek PA, Modahl C, Moore B, Bocian ME, Mays L, Laulhere T, Flodman P, Spence MA. 2002. Molecular genetic delineation of chromosome 13q12-q13 in a patient with autism and auditory processing deficits. Cytogenet Genome Res 98:233-239.
-
(2002)
Cytogenet Genome Res
, vol.98
, pp. 233-239
-
-
Smith, M.1
Woodroffe, A.2
Smith, R.3
Holguin, S.4
Martinez, J.5
Filipek, P.A.6
Modahl, C.7
Moore, B.8
Bocian, M.E.9
Mays, L.10
Laulhere, T.11
Flodman, P.12
Spence, M.A.13
-
22
-
-
0017747532
-
A case of (13q;18q) translocation with proximal 13q monosomy
-
Suzuki Y, Ono K, Oka S, Matsubara T, Arima M, Nakagome Y. 1977. A case of (13q;18q) translocation with proximal 13q monosomy. Hum Genet 38:337-341.
-
(1977)
Hum Genet
, vol.38
, pp. 337-341
-
-
Suzuki, Y.1
Ono, K.2
Oka, S.3
Matsubara, T.4
Arima, M.5
Nakagome, Y.6
-
23
-
-
0031613301
-
Gastroesophageal reflux disease in children older than two years of age
-
Tolaymat N, Chapman DM. 1998. Gastroesophageal reflux disease in children older than two years of age. W V Med J 94:22-25.
-
(1998)
W V Med J
, vol.94
, pp. 22-25
-
-
Tolaymat, N.1
Chapman, D.M.2
-
24
-
-
15944402131
-
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
-
Velagaleti GVN, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. 2005. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 76:652-662.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 652-662
-
-
Velagaleti, G.V.N.1
Bien-Willner, G.A.2
Northup, J.K.3
Lockhart, L.H.4
Hawkins, J.C.5
Jalal, S.M.6
Withers, M.7
Lupski, J.R.8
Stankiewicz, P.9
|