-
1
-
-
79953203480
-
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
-
1:CAS:528:DC%2BC3MXisFentb8%3D 21358631
-
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011;43:360-4.
-
(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
-
2
-
-
79953198187
-
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
-
3068194 1:CAS:528:DC%2BC3MXisFems7o%3D 21358632
-
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43:356-9.
-
(2011)
Nat Genet
, vol.43
, pp. 356-359
-
-
Bicknell, L.S.1
Bongers, E.M.2
Leitch, A.3
Brown, S.4
Schoots, J.5
Harley, M.E.6
-
3
-
-
79953167422
-
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
-
1:CAS:528:DC%2BC3MXisFentb4%3D 21358633
-
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011;43:350-5.
-
(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
-
4
-
-
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 BY, Bober MB, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012.
-
(2012)
Eur J Hum Genet.
-
-
De Munnik, S.A.1
Bicknell, L.S.2
Aftimos, S.3
Al-Aama, J.Y.4
Van5
Bober, M.B.6
-
5
-
-
84922978458
-
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3
-
25691413
-
Shalev SA, Khayat M, Etty DS, Elpeleg O. Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. Am J Med Genet A. 2015;167A:607-11.
-
(2015)
Am J Med Genet A
, vol.167
, pp. 607-611
-
-
Shalev, S.A.1
Khayat, M.2
Etty, D.S.3
Elpeleg, O.4
-
6
-
-
0027983718
-
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome)
-
1:STN:280:DyaK2M%2Fnt1Oltw%3D%3D 7981855
-
Boles RG, Teebi AS, Schwartz D, Harper JF. Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol. 1994;3:207-14.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 207-214
-
-
Boles, R.G.1
Teebi, A.S.2
Schwartz, D.3
Harper, J.F.4
-
7
-
-
0035426051
-
Meier-Gorlin syndrome: Report of eight additional cases and review
-
1:STN:280:DC%2BD3MvivFWnsQ%3D%3D 11477602
-
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, et al. Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet. 2001;102:115-24.
-
(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
-
8
-
-
0029814332
-
A new Seckel-like syndrome of primordial dwarfism
-
1:STN:280:DyaK2s%2FhsF2rsQ%3D%3D 8862620
-
Buebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas A. A new Seckel-like syndrome of primordial dwarfism. Am J Med Genet. 1996;64:447-52.
-
(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
-
9
-
-
0026072336
-
Microtia and short stature: A new syndrome
-
1017116 1:STN:280:DyaK387it1ejsA%3D%3D 1770537
-
Cohen B, Temple IK, Symons JC, Hall CM, Shaw DG, Bhamra M, et al. Microtia and short stature: a new syndrome. J Med Genet. 1991;28:786-90.
-
(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
-
10
-
-
0036134787
-
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: Clinical evaluation and analysis of possible candidate genes
-
11807867
-
Cohen A, Mulas R, Seri M, Gaiero A, Fichera G, Marini M, et al. Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. Am J Med Genet. 2002;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
-
11
-
-
4644296744
-
Total knee arthroplasty in Meier-Gorlin syndrome
-
15483813
-
Dudkiewicz M, Tanzer M. Total knee arthroplasty in Meier-Gorlin syndrome. J Arthroplasty. 2004;19:931-4.
-
(2004)
J Arthroplasty
, vol.19
, pp. 931-934
-
-
Dudkiewicz, M.1
Tanzer, M.2
-
12
-
-
24344457990
-
Meier-Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings
-
16088921
-
Faqeih E, Sakati N, Teebi AS. Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings. Am J Med Genet A. 2005;137A:339-41.
-
(2005)
Am J Med Genet A
, vol.137
, pp. 339-341
-
-
Faqeih, E.1
Sakati, N.2
Teebi, A.S.3
-
13
-
-
0037093727
-
Meier-Gorlin syndrome
-
11992493
-
Feingold M. Meier-Gorlin syndrome. Am J Med Genet. 2002;109:338.
-
(2002)
Am J Med Genet
, vol.109
, pp. 338
-
-
Feingold, M.1
-
14
-
-
0031846299
-
Meier-Gorlin syndrome: The adult phenotype
-
1:STN:280:DyaK1czlsVCmtA%3D%3D 9690002
-
Fryns JP. Meier-Gorlin syndrome: the adult phenotype. Clin Dysmorphol. 1998;7:231-2.
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 231-232
-
-
Fryns, J.P.1
-
15
-
-
0016823593
-
Malformation syndromes. A selected miscellany
-
1:STN:280:DyaE283gs1GksQ%3D%3D 819054
-
Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop Jr CJ. Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser. 1975;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, C.J.5
-
16
-
-
0023873525
-
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears
-
1:STN:280:DyaL1c7ksl2rsg%3D%3D 3344763
-
Hurst JA, Winter RM, Baraitser M. Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. Am J Med Genet. 1988;29:107-15.
-
(1988)
Am J Med Genet
, vol.29
, pp. 107-115
-
-
Hurst, J.A.1
Winter, R.M.2
Baraitser, M.3
-
17
-
-
0028610388
-
Clinical identification of a human equivalent to the short ear (se) murine phenotype
-
1:STN:280:DyaK2M3isFKhtw%3D%3D 7710253
-
Lacombe D, Toutain A, Gorlin RJ, Oley CA, Battin J. Clinical identification of a human equivalent to the short ear (se) murine phenotype. Ann Genet. 1994;37:184-91.
-
(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
-
18
-
-
0033532170
-
The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs
-
1:STN:280:DyaK1M3ivVSgtA%3D%3D 10213048
-
Loeys BL, Lemmerling MM, Van Mol CE, Leroy JG. The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. Am J Med Genet. 1999;84:61-7.
-
(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
-
19
-
-
70449289263
-
Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)
-
Meier Z, Poschiavo, Rotschild M. Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome). Helv Paediatr Acta. 1959, 14:213-16.
-
(1959)
Helv Paediatr Acta.
, vol.14
, pp. 213-216
-
-
Meier, Z.1
Poschiavo2
Rotschild, M.3
-
20
-
-
0041866708
-
Another adult with Meier-Gorlin syndrome - Insights into the natural history
-
14564153
-
Shalev SA, Hall JG. Another adult with Meier-Gorlin syndrome - insights into the natural history. Clin Dysmorphol. 2003;12:167-9.
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 167-169
-
-
Shalev, S.A.1
Hall, J.G.2
-
21
-
-
0033828702
-
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: Expansion of the phenotype?
-
1734706 1:STN:280:DC%2BD3M%2FitlKmtQ%3D%3D 11182936
-
Terhal PA, Ausems MG, van Bever Y, Kate LP, Dijkstra PF, Kuijpers GM. Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? J Med Genet. 2000;37:719-21.
-
(2000)
J Med Genet
, vol.37
, pp. 719-721
-
-
Terhal, P.A.1
Ausems, M.G.2
Van Bever, Y.3
Kate, L.P.4
Dijkstra, P.F.5
Kuijpers, G.M.6
-
22
-
-
84904264169
-
Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: Widening the clinical spectrum
-
1:STN:280:DC%2BC2cbmtVGhsA%3D%3D 25059018
-
Martinez-Barrera LE, Garcia-Delgado C, Manzano-Sierra C, Moran-Barroso VF. Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum. Genet Couns. 2014;25:189-95.
-
(2014)
Genet Couns
, vol.25
, pp. 189-195
-
-
Martinez-Barrera, L.E.1
Garcia-Delgado, C.2
Manzano-Sierra, C.3
Moran-Barroso, V.F.4
-
23
-
-
84867867919
-
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
-
23023959
-
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, et al. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A. 2012;158A:2733-42.
-
(2012)
Am J Med Genet A
, vol.158
, pp. 2733-2742
-
-
De Munnik, S.A.1
Otten, B.J.2
Schoots, J.3
Bicknell, L.S.4
Aftimos, S.5
Al-Aama, J.Y.6
-
24
-
-
80053642194
-
Mechanisms and pathways of growth failure in primordial dwarfism
-
3197200 1:CAS:528:DC%2BC3MXhtlyhtr%2FL 21979914
-
Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 2011;25:2011-24.
-
(2011)
Genes Dev
, vol.25
, pp. 2011-2024
-
-
Klingseisen, A.1
Jackson, A.P.2
-
25
-
-
84862818911
-
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome
-
3321094 1:CAS:528:DC%2BC38Xjtlyisrc%3D 22398447
-
Kuo AJ, Song J, Cheung P, Ishibe-Murakami S, Yamazoe S, Chen JK, et al. The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. Nature. 2012;484:115-9.
-
(2012)
Nature
, vol.484
, pp. 115-119
-
-
Kuo, A.J.1
Song, J.2
Cheung, P.3
Ishibe-Murakami, S.4
Yamazoe, S.5
Chen, J.K.6
-
26
-
-
84875989545
-
Deficiency in origin licensing proteins impairs cilia formation: Implications for the aetiology of Meier-Gorlin syndrome
-
e1003360 3597520 1:CAS:528:DC%2BC3sXlvValt7k%3D 23516378
-
Stiff T, Alagoz M, Alcantara D, Outwin E, Brunner HG, Bongers EM, et al. Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. PLoS Genet. 2013;9, e1003360.
-
(2013)
PLoS Genet
, vol.9
-
-
Stiff, T.1
Alagoz, M.2
Alcantara, D.3
Outwin, E.4
Brunner, H.G.5
Bongers, E.M.6
-
27
-
-
84865092757
-
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication
-
3426759 1:CAS:528:DC%2BC38Xhtlant7rN 22855792
-
Hossain M, Stillman B. Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. Genes Dev. 2012;26:1797-810.
-
(2012)
Genes Dev
, vol.26
, pp. 1797-1810
-
-
Hossain, M.1
Stillman, B.2
-
28
-
-
0020053315
-
Studies of microcephalic primordial dwarfism I: Approach to a delineation of the Seckel syndrome
-
1:STN:280:DyaL383islOksQ%3D%3D 7046443
-
Majewski F, Goecke T. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet. 1982;12:7-21.
-
(1982)
Am J Med Genet
, vol.12
, pp. 7-21
-
-
Majewski, F.1
Goecke, T.2
-
29
-
-
25144489724
-
Human syndromes with congenital patellar anomalies and the underlying gene defects
-
1:STN:280:DC%2BD2MvnsVehtw%3D%3D 16143015
-
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. Human syndromes with congenital patellar anomalies and the underlying gene defects. Clin Genet. 2005;68:302-19.
-
(2005)
Clin Genet
, vol.68
, pp. 302-319
-
-
Bongers, E.M.1
Van Kampen, A.2
Van Bokhoven, H.3
Knoers, N.V.4
|