-
1
-
-
0026607331
-
ATP-dependent recognition of eukaryotic origins of DNA replication by a multiprotein complex
-
Bell SP, Stillman B. 1992. ATP-dependent recognition of eukaryotic origins of DNA replication by a multiprotein complex. Nature 357: 128-134.
-
(1992)
Nature
, vol.357
, pp. 128-134
-
-
Bell, S.P.1
Stillman, B.2
-
2
-
-
79953198187
-
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
-
Bicknell LS, Bongers EMHF, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PAJ, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NVAM, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. 2011a. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet 43: 356-359.
-
(2011)
Nat Genet
, vol.43
, pp. 356-359
-
-
Bicknell, L.S.1
Bongers, E.M.H.F.2
Leitch, A.3
Brown, S.4
Schoots, J.5
Harley, M.E.6
Aftimos, S.7
Al-Aama, J.Y.8
Bober, M.9
Brown, P.A.J.10
van Bokhoven, H.11
Dean, J.12
Edrees, A.Y.13
Feingold, M.14
Fryer, A.15
Hoefsloot, L.H.16
Kau, N.17
Knoers, N.V.A.M.18
Mackenzie, J.19
Opitz, J.M.20
Sarda, P.21
Ross, A.22
Temple, I.K.23
Toutain, A.24
Wise, C.A.25
Wright, M.26
Jackson, A.P.27
more..
-
3
-
-
79953167422
-
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
-
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise CA, Jackson AP, O'Driscoll M, Jeggo PA. 2011b. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet 43: 350-355.
-
(2011)
Nat Genet
, vol.43
, pp. 350-355
-
-
Bicknell, L.S.1
Walker, S.2
Klingseisen, A.3
Stiff, T.4
Leitch, A.5
Kerzendorfer, C.6
Martin, C.A.7
Yeyati, P.8
Al Sanna, N.9
Bober, M.10
Johnson, D.11
Wise, C.A.12
Jackson, A.P.13
O'Driscoll, M.14
Jeggo, P.A.15
-
4
-
-
0027983718
-
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome)
-
Boles RG, Teebi AS, Schwartz D, Harper JF. 1994. Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol 3: 207-214.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 207-214
-
-
Boles, R.G.1
Teebi, A.S.2
Schwartz, D.3
Harper, J.F.4
-
5
-
-
0035426051
-
Meier-Gorlin syndrome: Report of eight additional cases and review
-
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BCJ, Knoers NVAM. 2001. Meier-Gorlin syndrome: Report of eight additional cases and review. Am J Med Genet 102: 115-124.
-
(2001)
Am J Med Genet
, vol.102
, pp. 115-124
-
-
Bongers, E.M.1
Opitz, J.M.2
Fryer, A.3
Sarda, P.4
Hennekam, R.C.5
Hall, B.D.6
Superneau, D.W.7
Harbison, M.8
Poss, A.9
van Bokhoven, H.10
Hamel, B.C.J.11
Knoers, N.V.A.M.12
-
6
-
-
0029814332
-
A new Seckel-like syndrome of primordial dwarfism
-
Buebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas A. 1996. A new Seckel-like syndrome of primordial dwarfism. Am J Med Genet 64: 447-452.
-
(1996)
Am J Med Genet
, vol.64
, pp. 447-452
-
-
Buebel, M.S.1
Salinas, C.F.2
Pai, G.S.3
Macpherson, R.I.4
Greer, M.K.5
Perez-Comas, A.6
-
7
-
-
0026072336
-
Microtia and short stature: A new syndrome
-
Cohen B, Temple IK, Symons JC, Hall CM, Shaw DG, Bhamra M, Jackson AM, Pembrey ME. 1991. Microtia and short stature: A new syndrome. J Med Genet 28: 786-790.
-
(1991)
J Med Genet
, vol.28
, pp. 786-790
-
-
Cohen, B.1
Temple, I.K.2
Symons, J.C.3
Hall, C.M.4
Shaw, D.G.5
Bhamra, M.6
Jackson, A.M.7
Pembrey, M.E.8
-
8
-
-
0036134787
-
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes
-
Cohen A, Mulas R, Seri M, Gaiero A, Fichera G, Marini M, Baffico M, Camera G. 2002. Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. Am J Med Genet 107: 48-51.
-
(2002)
Am J Med Genet
, vol.107
, pp. 48-51
-
-
Cohen, A.1
Mulas, R.2
Seri, M.3
Gaiero, A.4
Fichera, G.5
Marini, M.6
Baffico, M.7
Camera, G.8
-
9
-
-
84862820018
-
Meier-Gorlin syndrome genotype-phenotype studies: 35 Individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
-
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. 2012. Meier-Gorlin syndrome genotype-phenotype studies: 35 Individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet 20: 598-606.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 598-606
-
-
de Munnik, S.A.1
Bicknell, L.S.2
Aftimos, S.3
Al-Aama, J.Y.4
van Bever, Y.5
Bober, M.B.6
Clayton-Smith, J.7
Edrees, A.Y.8
Feingold, M.9
Fryer, A.10
van Hagen, J.M.11
Hennekam, R.C.12
Jansweijer, M.C.13
Johnson, D.14
Kant, S.G.15
Opitz, J.M.16
Ramadevi, A.R.17
Reardon, W.18
Ross, A.19
Sarda, P.20
Schrander-Stumpel, C.T.21
Schoots, J.22
Temple, I.K.23
Terhal, P.A.24
Toutain, A.25
Wise, C.A.26
Wright, M.27
Skidmore, D.L.28
Samuels, M.E.29
Hoefsloot, L.H.30
Knoers, N.V.31
Brunner, H.G.32
Jackson, A.P.33
Bongers, E.M.34
more..
-
10
-
-
4644296744
-
Total knee arthroplasty in Meier-Gorlin syndrome
-
Dudkiewicz M, Tanzer M. 2004. Total knee arthroplasty in Meier-Gorlin syndrome. J Arthroplasty 19: 931-934.
-
(2004)
J Arthroplasty
, vol.19
, pp. 931-934
-
-
Dudkiewicz, M.1
Tanzer, M.2
-
11
-
-
24344457990
-
Meier-Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings
-
Faqeih E, Sakati N, Teebi AS. 2005. Meier-Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings. Am J Med Genet Part A 137A: 339-341.
-
(2005)
Am J Med Genet Part A
, vol.137 A
, pp. 339-341
-
-
Faqeih, E.1
Sakati, N.2
Teebi, A.S.3
-
12
-
-
0037093727
-
Meier-Gorlin syndrome
-
Feingold M. 2002. Meier-Gorlin syndrome. Am J Med Genet 109: 338.
-
(2002)
Am J Med Genet
, vol.109
, pp. 338
-
-
Feingold, M.1
-
13
-
-
0031846299
-
Meier-Gorlin syndrome: The adult phenotype
-
Fryns JP. 1998. Meier-Gorlin syndrome: The adult phenotype. Clin Dysmorphol 7: 231-232.
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 231-232
-
-
Fryns, J.P.1
-
14
-
-
84862789460
-
Expanding the phenotypical spectrum of Meier-Gorlin syndrome with novel findings: Multiple hypopigmented skin lesions and sacral dimple
-
Gezdirici A, Yosunkaya E, Paydas A, Seven M, Yuksel A. 2010. Expanding the phenotypical spectrum of Meier-Gorlin syndrome with novel findings: Multiple hypopigmented skin lesions and sacral dimple. Clin Genet 78: 29.
-
(2010)
Clin Genet
, vol.78
, pp. 29
-
-
Gezdirici, A.1
Yosunkaya, E.2
Paydas, A.3
Seven, M.4
Yuksel, A.5
-
15
-
-
0016823593
-
Malformation syndromes. A selected miscellany
-
Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ Jr. 1975. Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser 11: 39-50.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 39-50
-
-
Gorlin, R.J.1
Cervenka, J.2
Moller, K.3
Horrobin, M.4
Witkop Jr., C.J.5
-
17
-
-
79953203480
-
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
-
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, Leblanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. 2011. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet 43: 360-364.
-
(2011)
Nat Genet
, vol.43
, pp. 360-364
-
-
Guernsey, D.L.1
Matsuoka, M.2
Jiang, H.3
Evans, S.4
Macgillivray, C.5
Nightingale, M.6
Perry, S.7
Ferguson, M.8
Leblanc, M.9
Paquette, J.10
Patry, L.11
Rideout, A.L.12
Thomas, A.13
Orr, A.14
McMaster, C.R.15
Michaud, J.L.16
Deal, C.17
Langlois, S.18
Superneau, D.W.19
Parkash, S.20
Ludman, M.21
Skidmore, D.L.22
Samuels, M.E.23
more..
-
19
-
-
0017807899
-
Standard growth curves for achondroplasia
-
Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG. 1978. Standard growth curves for achondroplasia. J Pediatr 93: 435-438.
-
(1978)
J Pediatr
, vol.93
, pp. 435-438
-
-
Horton, W.A.1
Rotter, J.I.2
Rimoin, D.L.3
Scott, C.I.4
Hall, J.G.5
-
20
-
-
58549096321
-
Elements of morphology: Standard terminology for the ear
-
Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. 2009. Elements of morphology: Standard terminology for the ear. Am J Med Genet Part A 149A: 40-60.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 40-60
-
-
Hunter, A.1
Frias, J.L.2
Gillessen-Kaesbach, G.3
Hughes, H.4
Jones, K.L.5
Wilson, L.6
-
21
-
-
0023873525
-
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears
-
Hurst JA, Winter RM, Baraitser M. 1988. Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. Am J Med Genet 29: 107-115.
-
(1988)
Am J Med Genet
, vol.29
, pp. 107-115
-
-
Hurst, J.A.1
Winter, R.M.2
Baraitser, M.3
-
22
-
-
80053642194
-
Mechanisms and pathways of growth failure in primordial dwarfism
-
Klingseisen A, Jackson AP. 2011. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev 25: 2011-2024.
-
(2011)
Genes Dev
, vol.25
, pp. 2011-2024
-
-
Klingseisen, A.1
Jackson, A.P.2
-
23
-
-
0028610388
-
Clinical identification of a human equivalent to the short ear (se) murine phenotype
-
Lacombe D, Toutain A, Gorlin RJ, Oley CA, Battin J. 1994. Clinical identification of a human equivalent to the short ear (se) murine phenotype. Ann Genet 37: 184-191.
-
(1994)
Ann Genet
, vol.37
, pp. 184-191
-
-
Lacombe, D.1
Toutain, A.2
Gorlin, R.J.3
Oley, C.A.4
Battin, J.5
-
24
-
-
84867848559
-
Multilevel health modeling of statistics
-
Chichester: Wiley Europe. p
-
Leyland AH, Goldstein H. 2001. Multilevel health modeling of statistics. Chichester: Wiley Europe. p 246.
-
(2001)
, pp. 246
-
-
Leyland, A.H.1
Goldstein, H.2
-
25
-
-
77749345450
-
Data analysis in KIGS
-
In: Ranke MB, Price DA, Reiter EO, editors. Basel: Karger
-
Lindberg A, Ranke MB. 2007. Data analysis in KIGS. In: Ranke MB, Price DA, Reiter EO, editors. Growth hormone therapy in pediatrics-20 years of KIGS. Basel: Karger. pp 23-28.
-
(2007)
Growth hormone therapy in pediatrics-20 years of KIGS
, pp. 23-28
-
-
Lindberg, A.1
Ranke, M.B.2
-
26
-
-
0033532170
-
The Meier-Gorlin syndrome, or ear-patella short stature syndrome, in sibs
-
Loeys BL, Lemmerling MM, Van Mol CE, Leroy JG. 1999. The Meier-Gorlin syndrome, or ear-patella short stature syndrome, in sibs. Am J Med Genet 84: 61-67.
-
(1999)
Am J Med Genet
, vol.84
, pp. 61-67
-
-
Loeys, B.L.1
Lemmerling, M.M.2
Van Mol, C.E.3
Leroy, J.G.4
-
27
-
-
70449289263
-
Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)
-
Meier Z, Poschiavo ??, Rotschild M. 1959. Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome). Helv Paediatr Acta 14: 213-216.
-
(1959)
Helv Paediatr Acta
, vol.14
, pp. 213-216
-
-
Meier, Z.1
Poschiavo2
Rotschild, M.3
-
28
-
-
42149088928
-
Continuous growth reference from 24th week of gestation to 24 months by gender
-
Niklasson A, Albertsson-Wikland K. 2008. Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr 8: 8.
-
(2008)
BMC Pediatr
, vol.8
, pp. 8
-
-
Niklasson, A.1
Albertsson-Wikland, K.2
-
29
-
-
0034611749
-
The Cdt1 protein is required to license DNA for replication in fission yeast
-
Nishitani H, Lygerou Z, Nishimoto T, Nurse P. 2000. The Cdt1 protein is required to license DNA for replication in fission yeast. Nature 404: 625-628.
-
(2000)
Nature
, vol.404
, pp. 625-628
-
-
Nishitani, H.1
Lygerou, Z.2
Nishimoto, T.3
Nurse, P.4
-
30
-
-
0020661854
-
Growth and maturation of patients with Turner's syndrome
-
Park E, Bailey D, Cowell CA. 1983. Growth and maturation of patients with Turner's syndrome. Pediatr Res 17: 1-7.
-
(1983)
Pediatr Res
, vol.17
, pp. 1-7
-
-
Park, E.1
Bailey, D.2
Cowell, C.A.3
-
31
-
-
0024689265
-
Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development
-
Prader A, Largo RH, Molinari L, Issler C. 1989. Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl 52: 1-125.
-
(1989)
Helv Paediatr Acta Suppl
, vol.52
, pp. 1-125
-
-
Prader, A.1
Largo, R.H.2
Molinari, L.3
Issler, C.4
-
32
-
-
0031712476
-
Plasma levels of insulin-like growth factor (IGF)-I, IGF-II and IGF-binding protein-3 in the evaluation of childhood growth hormone deficiency
-
Rikken B, van Doorn J, Ringeling A, Van den Brande JL, Massa G, Wit JM. 1998. Plasma levels of insulin-like growth factor (IGF)-I, IGF-II and IGF-binding protein-3 in the evaluation of childhood growth hormone deficiency. Horm Res 50: 166-176.
-
(1998)
Horm Res
, vol.50
, pp. 166-176
-
-
Rikken, B.1
van Doorn, J.2
Ringeling, A.3
Van den Brande, J.L.4
Massa, G.5
Wit, J.M.6
-
33
-
-
0041866708
-
Another adult with Meier-Gorlin syndrome-insights into the natural history
-
Shalev SA, Hall JG. 2003. Another adult with Meier-Gorlin syndrome-insights into the natural history. Clin Dysmorphol 12: 167-169.
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 167-169
-
-
Shalev, S.A.1
Hall, J.G.2
-
34
-
-
0033828702
-
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: Expansion of the phenotype?
-
Terhal PA, Ausems MGEM, van Bever Y, ten Kate LP, Dijkstra PF, Kuijpers GMC. 2000. Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: Expansion of the phenotype? J Med Genet 37: 719-721.
-
(2000)
J Med Genet
, vol.37
, pp. 719-721
-
-
Terhal, P.A.1
Ausems, M.G.E.M.2
van Bever, Y.3
Ten Kate, L.P.4
Dijkstra, P.F.5
Kuijpers, G.M.C.6
|