-
1
-
-
0025041567
-
Disseminated porokeratosis in an infant with craniosynostosis
-
Judge M.R., Michaels M., Sams V.R., David T.J., Harper J.I. Disseminated porokeratosis in an infant with craniosynostosis. Br. J. Dermatol. 1990, 123:249-254.
-
(1990)
Br. J. Dermatol.
, vol.123
, pp. 249-254
-
-
Judge, M.R.1
Michaels, M.2
Sams, V.R.3
David, T.J.4
Harper, J.I.5
-
2
-
-
0019504828
-
Two siblings with cleidocranial dysplasia associated with atresia ani and psoriasis-like lesions: a new syndrome?
-
Fukuda K., Miyanomae T., Nakata E., Tanaka M., Tanaka Y., Usui T. Two siblings with cleidocranial dysplasia associated with atresia ani and psoriasis-like lesions: a new syndrome?. Eur. J. Pediatr. 1981, 136:109-111.
-
(1981)
Eur. J. Pediatr.
, vol.136
, pp. 109-111
-
-
Fukuda, K.1
Miyanomae, T.2
Nakata, E.3
Tanaka, M.4
Tanaka, Y.5
Usui, T.6
-
3
-
-
20544454118
-
Characterization of a new syndrome that associates craniosynostosis, delayed fontanelle closure, parietal foramina, imperforate anus and skin eruption: CDAGS
-
Mendoza-Londono R., Lammer E., Watson R., Harper J., Hatamochi A., Hatamochi-Hayashi S., Napierala D., Hermanns P., Collins S., Roa B.B., Hedge M.R., Wakui K., et al. Characterization of a new syndrome that associates craniosynostosis, delayed fontanelle closure, parietal foramina, imperforate anus and skin eruption: CDAGS. Am. J. Hum. Genet. 2005, 77:161-168.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 161-168
-
-
Mendoza-Londono, R.1
Lammer, E.2
Watson, R.3
Harper, J.4
Hatamochi, A.5
Hatamochi-Hayashi, S.6
Napierala, D.7
Hermanns, P.8
Collins, S.9
Roa, B.B.10
Hedge, M.R.11
Wakui, K.12
-
4
-
-
0031868526
-
Familial craniosynostosis, anal anomalies and porokeratosis: CAP syndrome
-
Flanagan N., Boyadjiev S.A., Harper J., Kyne L., Earley M., Watson R., Jabs E.W., Geraghty M.T. Familial craniosynostosis, anal anomalies and porokeratosis: CAP syndrome. J.Med. Genet. 1998, 35:763-766.
-
(1998)
J.Med. Genet.
, vol.35
, pp. 763-766
-
-
Flanagan, N.1
Boyadjiev, S.A.2
Harper, J.3
Kyne, L.4
Earley, M.5
Watson, R.6
Jabs, E.W.7
Geraghty, M.T.8
-
5
-
-
84872006210
-
Clinical application of 2.7M cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability
-
Qiao Y., Tyson C., Hrynchak M., Lopez-Rangel E., Hildebrand J., Martell S., Fawcett C., Kasmara L., Calli K., Harvard C., Liu X., Holden J., et al. Clinical application of 2.7M cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability. Clin. Genet. 2013, 83:145-154.
-
(2013)
Clin. Genet.
, vol.83
, pp. 145-154
-
-
Qiao, Y.1
Tyson, C.2
Hrynchak, M.3
Lopez-Rangel, E.4
Hildebrand, J.5
Martell, S.6
Fawcett, C.7
Kasmara, L.8
Calli, K.9
Harvard, C.10
Liu, X.11
Holden, J.12
-
6
-
-
32944476196
-
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
-
Van Maldergem L., Siitonen H.A., Jalkh N., Chouery E., De Roy M., Delague V., Muenke M., Jabs E.W., Cai J., Wang L.L., Plon S.E., Fourneau C., Kestila M., Gillerot Y., Megarbane A., Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J.Med. Genet. 2006, 43:148-152.
-
(2006)
J.Med. Genet.
, vol.43
, pp. 148-152
-
-
Van Maldergem, L.1
Siitonen, H.A.2
Jalkh, N.3
Chouery, E.4
De Roy, M.5
Delague, V.6
Muenke, M.7
Jabs, E.W.8
Cai, J.9
Wang, L.L.10
Plon, S.E.11
Fourneau, C.12
Kestila, M.13
Gillerot, Y.14
Megarbane, A.15
Verloes, A.16
-
7
-
-
73149112435
-
Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene
-
Volpi L., Roversi G., Colombo E.A., Leijsten N., Concolino D., Calabria A., Mencarelli M.A., Fimiani M., Macciardi F., Pfundt R., Schoenmakers E.F.P.M., Larizza L. Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene. Am. J. Hum. Genet. 2010, 86:72-76.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 72-76
-
-
Volpi, L.1
Roversi, G.2
Colombo, E.A.3
Leijsten, N.4
Concolino, D.5
Calabria, A.6
Mencarelli, M.A.7
Fimiani, M.8
Macciardi, F.9
Pfundt, R.10
Schoenmakers, E.F.P.M.11
Larizza, L.12
-
8
-
-
70349449240
-
Assembly of the Cdc45-Mcm2-7-GINS complex in human cells requires the Ctf4/And-1, RecQL4, and Mcm10 proteins
-
Im J.S., Ki S.H., Farina A., Jung D.S., Hurwitz J., Lee J.K. Assembly of the Cdc45-Mcm2-7-GINS complex in human cells requires the Ctf4/And-1, RecQL4, and Mcm10 proteins. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:15628-15632.
-
(2009)
Proc. Natl. Acad. Sci. U. S. A.
, vol.106
, pp. 15628-15632
-
-
Im, J.S.1
Ki, S.H.2
Farina, A.3
Jung, D.S.4
Hurwitz, J.5
Lee, J.K.6
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