-
1
-
-
53349134107
-
Genome instability, DNA repair and cancer
-
Wolff K., Goldsmith L.A., Katz S.I., Gilchrest B.A., Paller A.S., and Leffell D.J. (Eds), McGraw Hill, New York
-
Kraemer K.H., and Ruenger T.M. Genome instability, DNA repair and cancer. In: Wolff K., Goldsmith L.A., Katz S.I., Gilchrest B.A., Paller A.S., and Leffell D.J. (Eds). Fitzpatrick's Dermatology in General Medicine (2008), McGraw Hill, New York 977-986
-
(2008)
Fitzpatrick's Dermatology in General Medicine
, pp. 977-986
-
-
Kraemer, K.H.1
Ruenger, T.M.2
-
2
-
-
53349154784
-
Hereditary diseases of genome instability and DNA repair
-
Wolff K., Goldsmith L.A., Katz S.I., Gilchrest B.A., Paller A.S., and Leffell D.J. (Eds), McGraw Hill, New York
-
Ruenger T.M., DiGiovanna J.J., and Kraemer K.H. Hereditary diseases of genome instability and DNA repair. In: Wolff K., Goldsmith L.A., Katz S.I., Gilchrest B.A., Paller A.S., and Leffell D.J. (Eds). Fitzpatrick's Dermatology in General Medicine (2008), McGraw Hill, New York 1311-1325
-
(2008)
Fitzpatrick's Dermatology in General Medicine
, pp. 1311-1325
-
-
Ruenger, T.M.1
DiGiovanna, J.J.2
Kraemer, K.H.3
-
3
-
-
0004228157
-
-
ASM Press, Washington, DC
-
Friedberg E.C., Walker G.C., Siede W., Wood R.D., Schultz R.A., and Ellenberger T. DNA Repair and Mutagenesis (2006), ASM Press, Washington, DC
-
(2006)
DNA Repair and Mutagenesis
-
-
Friedberg, E.C.1
Walker, G.C.2
Siede, W.3
Wood, R.D.4
Schultz, R.A.5
Ellenberger, T.6
-
4
-
-
0023130695
-
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
-
Kraemer K.H., Lee M.M., and Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch. Dermatol. 123 (1987) 241-250
-
(1987)
Arch. Dermatol.
, vol.123
, pp. 241-250
-
-
Kraemer, K.H.1
Lee, M.M.2
Scotto, J.3
-
5
-
-
0028110878
-
The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: the xeroderma pigmentosum paradigm
-
Kraemer K.H., Lee M.-M., Andrews A.D., and Lambert W.C. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: the xeroderma pigmentosum paradigm. Arch. Dermatol. 130 (1994) 1018-1021
-
(1994)
Arch. Dermatol.
, vol.130
, pp. 1018-1021
-
-
Kraemer, K.H.1
Lee, M.-M.2
Andrews, A.D.3
Lambert, W.C.4
-
6
-
-
0035057195
-
Xeroderma pigmentosum-bridging a gap between clinic and laboratory
-
Moriwaki S., and Kraemer K.H. Xeroderma pigmentosum-bridging a gap between clinic and laboratory. Photodermatol. Photoimmunol. Photomed. 17 (2001) 47-54
-
(2001)
Photodermatol. Photoimmunol. Photomed.
, vol.17
, pp. 47-54
-
-
Moriwaki, S.1
Kraemer, K.H.2
-
7
-
-
0037102580
-
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
-
Khan S.G., Muniz-Medina V., Shahlavi T., Baker C.C., Inui H., Ueda T., Emmert S., Schneider T.D., and Kraemer K.H. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res. 30 (2002) 3624-3631
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 3624-3631
-
-
Khan, S.G.1
Muniz-Medina, V.2
Shahlavi, T.3
Baker, C.C.4
Inui, H.5
Ueda, T.6
Emmert, S.7
Schneider, T.D.8
Kraemer, K.H.9
-
8
-
-
0026697582
-
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C
-
[published erratum appears in 1992 December 10;360 (6404):610]
-
Legerski R., and Peterson C. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature 359 (1992) 70-73 [published erratum appears in 1992 December 10;360 (6404):610]
-
(1992)
Nature
, vol.359
, pp. 70-73
-
-
Legerski, R.1
Peterson, C.2
-
9
-
-
34247169028
-
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
-
Kraemer K.H., Patronas N.J., Schiffmann R., Brooks B.P., Tamura D., and DiGiovanna J.J. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 145 (2007) 1388-1396
-
(2007)
Neuroscience
, vol.145
, pp. 1388-1396
-
-
Kraemer, K.H.1
Patronas, N.J.2
Schiffmann, R.3
Brooks, B.P.4
Tamura, D.5
DiGiovanna, J.J.6
-
10
-
-
29744457502
-
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients
-
Khan S.G., Oh K.S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E., Slor H., Sarasin A., and Kraemer K.H. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27 (2006) 84-94
-
(2006)
Carcinogenesis
, vol.27
, pp. 84-94
-
-
Khan, S.G.1
Oh, K.S.2
Shahlavi, T.3
Ueda, T.4
Busch, D.B.5
Inui, H.6
Emmert, S.7
Imoto, K.8
Muniz-Medina, V.9
Baker, C.C.10
DiGiovanna, J.J.11
Schmidt, D.12
Khadavi, A.13
Metin, A.14
Gozukara, E.15
Slor, H.16
Sarasin, A.17
Kraemer, K.H.18
-
11
-
-
0023102949
-
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors
-
Daya-Grosjean L., James M.R., Drougard C., and Sarasin A. An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. Mutat. Res. 183 (1987) 185-196
-
(1987)
Mutat. Res.
, vol.183
, pp. 185-196
-
-
Daya-Grosjean, L.1
James, M.R.2
Drougard, C.3
Sarasin, A.4
-
12
-
-
0036280841
-
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
-
Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.M., Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T., Cleaver J.E., and Kraemer K.H. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J. Invest. Dermatol. 118 (2002) 972-982
-
(2002)
J. Invest. Dermatol.
, vol.118
, pp. 972-982
-
-
Emmert, S.1
Slor, H.2
Busch, D.B.3
Batko, S.4
Albert, R.B.5
Coleman, D.6
Khan, S.G.7
Abu-Libdeh, B.8
DiGiovanna, J.J.9
Cunningham, B.B.10
Lee, M.M.11
Crollick, J.12
Inui, H.13
Ueda, T.14
Hedayati, M.15
Grossman, L.16
Shahlavi, T.17
Cleaver, J.E.18
Kraemer, K.H.19
-
13
-
-
18744398999
-
The total amount of DNA damage determines ultraviolet-radiation-induced cytotoxicity after uniformor localized irradiation of human cells
-
Imoto K., Kobayashi N., Katsumi S., Nishiwaki Y., Iwamoto T.A., Yamamoto A., Yamashina Y., Shirai T., Miyagawa S., Dohi Y., Sugiura S., and Mori T. The total amount of DNA damage determines ultraviolet-radiation-induced cytotoxicity after uniformor localized irradiation of human cells. J. Invest. Dermatol. 119 (2002) 1177-1182
-
(2002)
J. Invest. Dermatol.
, vol.119
, pp. 1177-1182
-
-
Imoto, K.1
Kobayashi, N.2
Katsumi, S.3
Nishiwaki, Y.4
Iwamoto, T.A.5
Yamamoto, A.6
Yamashina, Y.7
Shirai, T.8
Miyagawa, S.9
Dohi, Y.10
Sugiura, S.11
Mori, T.12
-
14
-
-
10744227216
-
Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4) photoproducts
-
Nishiwaki Y., Kobayashi N., Imoto K., Iwamoto T.A., Yamamoto A., Katsumi S., Shirai T., Sugiura S., Nakamura Y., Sarasin A., Miyagawa S., and Mori T. Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4) photoproducts. J. Invest. Dermatol. 122 (2004) 526-532
-
(2004)
J. Invest. Dermatol.
, vol.122
, pp. 526-532
-
-
Nishiwaki, Y.1
Kobayashi, N.2
Imoto, K.3
Iwamoto, T.A.4
Yamamoto, A.5
Katsumi, S.6
Shirai, T.7
Sugiura, S.8
Nakamura, Y.9
Sarasin, A.10
Miyagawa, S.11
Mori, T.12
-
15
-
-
0031907860
-
Three-dimensional visualization of ultraviolet-induced DNA damage and its repair in human cell nuclei
-
Nakagawa A., Kobayashi N., Muramatsu T., Yamashina Y., Shirai T., Hashimoto M.W., Ikenaga M., and Mori T. Three-dimensional visualization of ultraviolet-induced DNA damage and its repair in human cell nuclei. J. Invest. Dermatol. 110 (1998) 143-148
-
(1998)
J. Invest. Dermatol.
, vol.110
, pp. 143-148
-
-
Nakagawa, A.1
Kobayashi, N.2
Muramatsu, T.3
Yamashina, Y.4
Shirai, T.5
Hashimoto, M.W.6
Ikenaga, M.7
Mori, T.8
-
16
-
-
0020321435
-
Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion
-
Jaspers N.G., and Bootsma D. Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion. Proc. Natl. Acad. Sci. U.S.A. 79 (1982) 2641-2644
-
(1982)
Proc. Natl. Acad. Sci. U.S.A.
, vol.79
, pp. 2641-2644
-
-
Jaspers, N.G.1
Bootsma, D.2
-
17
-
-
0035088736
-
Quantitation and visualization of ultraviolet-induced DNA damage using specific antibodies: application to pigment cell biology
-
Kobayashi N., Katsumi S., Imoto K., Nakagawa A., Miyagawa S., Furumura M., and Mori T. Quantitation and visualization of ultraviolet-induced DNA damage using specific antibodies: application to pigment cell biology. Pigment Cell Res. 14 (2001) 94-102
-
(2001)
Pigment Cell Res.
, vol.14
, pp. 94-102
-
-
Kobayashi, N.1
Katsumi, S.2
Imoto, K.3
Nakagawa, A.4
Miyagawa, S.5
Furumura, M.6
Mori, T.7
-
18
-
-
34547753510
-
Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage
-
Oh K.S., Imoto K., Boyle J., Khan S.G., and Kraemer K.H. Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. DNA Repair (Amst.) 6 (2007) 1359-1370
-
(2007)
DNA Repair (Amst.)
, vol.6
, pp. 1359-1370
-
-
Oh, K.S.1
Imoto, K.2
Boyle, J.3
Khan, S.G.4
Kraemer, K.H.5
-
19
-
-
17944361949
-
Sequential assembly of the nucleotide excision repair factors in vivo
-
Volker M., Mone M.J., Karmakar P., van Hoffen A., Schul W., Vermeulen W., Hoeijmakers J.H., van Driel R., van Zeeland A.A., and Mullenders L.H. Sequential assembly of the nucleotide excision repair factors in vivo. Mol. Cell. 8 (2001) 213-224
-
(2001)
Mol. Cell.
, vol.8
, pp. 213-224
-
-
Volker, M.1
Mone, M.J.2
Karmakar, P.3
van Hoffen, A.4
Schul, W.5
Vermeulen, W.6
Hoeijmakers, J.H.7
van Driel, R.8
van Zeeland, A.A.9
Mullenders, L.H.10
-
20
-
-
0035722196
-
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor
-
Gozukara E.M., Khan S.G., Metin A., Emmert S., Busch D.B., Shahlavi T., Coleman D.M., Miller M., Chinsomboon N., Stefanini M., and Kraemer K.H. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J. Invest. Dermatol. 117 (2001) 197-204
-
(2001)
J. Invest. Dermatol.
, vol.117
, pp. 197-204
-
-
Gozukara, E.M.1
Khan, S.G.2
Metin, A.3
Emmert, S.4
Busch, D.B.5
Shahlavi, T.6
Coleman, D.M.7
Miller, M.8
Chinsomboon, N.9
Stefanini, M.10
Kraemer, K.H.11
-
21
-
-
0842282627
-
Differential repair of the two major UV-induced photolesions in trichothiodystrophy fibroblasts
-
Riou L., Eveno E., van Hoffen A., van Zeeland A.A., Sarasin A., and Mullenders L.H. Differential repair of the two major UV-induced photolesions in trichothiodystrophy fibroblasts. Cancer Res. 64 (2004) 889-894
-
(2004)
Cancer Res.
, vol.64
, pp. 889-894
-
-
Riou, L.1
Eveno, E.2
van Hoffen, A.3
van Zeeland, A.A.4
Sarasin, A.5
Mullenders, L.H.6
-
22
-
-
0034007866
-
The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts
-
Emmert S., Kobayashi N., Khan S.G., and Kraemer K.H. The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts. Proc. Natl. Acad. Sci. U.S.A. 97 (2000) 2151-2156
-
(2000)
Proc. Natl. Acad. Sci. U.S.A.
, vol.97
, pp. 2151-2156
-
-
Emmert, S.1
Kobayashi, N.2
Khan, S.G.3
Kraemer, K.H.4
-
23
-
-
0034027382
-
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels
-
Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A., Lehmann A.R., and Stefanini M. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res. 60 (2000) 1974-1982
-
(2000)
Cancer Res.
, vol.60
, pp. 1974-1982
-
-
Chavanne, F.1
Broughton, B.C.2
Pietra, D.3
Nardo, T.4
Browitt, A.5
Lehmann, A.R.6
Stefanini, M.7
-
24
-
-
0031738328
-
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia
-
Khan S.G., Levy H.L., Legerski R., Quackenbush E., Reardon J.T., Emmert S., Sancar A., Li L., Schneider T.D., Cleaver J.E., and Kraemer K.H. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J. Invest. Dermatol. 111 (1998) 791-796
-
(1998)
J. Invest. Dermatol.
, vol.111
, pp. 791-796
-
-
Khan, S.G.1
Levy, H.L.2
Legerski, R.3
Quackenbush, E.4
Reardon, J.T.5
Emmert, S.6
Sancar, A.7
Li, L.8
Schneider, T.D.9
Cleaver, J.E.10
Kraemer, K.H.11
-
25
-
-
0027370825
-
Characterization of molecular defects in xeroderma pigmentosum group C
-
Li L., Bales E.S., Peterson C.A., and Legerski R.J. Characterization of molecular defects in xeroderma pigmentosum group C. Nat. Genet. 5 (1993) 413-417
-
(1993)
Nat. Genet.
, vol.5
, pp. 413-417
-
-
Li, L.1
Bales, E.S.2
Peterson, C.A.3
Legerski, R.J.4
-
26
-
-
17844385847
-
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects
-
Ridley A.J., Colley J., Wynford-Thomas D., and Jones C.J. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. J. Hum. Genet. 50 (2005) 151-154
-
(2005)
J. Hum. Genet.
, vol.50
, pp. 151-154
-
-
Ridley, A.J.1
Colley, J.2
Wynford-Thomas, D.3
Jones, C.J.4
-
27
-
-
33845779788
-
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC
-
Rivera-Begeman A., McDaniel L.D., Schultz R.A., and Friedberg E.C. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. DNA Repair (Amst.) 6 (2007) 100-114
-
(2007)
DNA Repair (Amst.)
, vol.6
, pp. 100-114
-
-
Rivera-Begeman, A.1
McDaniel, L.D.2
Schultz, R.A.3
Friedberg, E.C.4
-
28
-
-
0034518194
-
Clinical, cellular, and molecular features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC gene: sun protection prolongs life
-
Slor H., Batko S., Khan S.G., Sobe T., Emmert S., Khadavi A., Frumkin A., Busch D.B., Albert R.B., and Kraemer K.H. Clinical, cellular, and molecular features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC gene: sun protection prolongs life. J. Invest. Dermatol. 115 (2000) 974-980
-
(2000)
J. Invest. Dermatol.
, vol.115
, pp. 974-980
-
-
Slor, H.1
Batko, S.2
Khan, S.G.3
Sobe, T.4
Emmert, S.5
Khadavi, A.6
Frumkin, A.7
Busch, D.B.8
Albert, R.B.9
Kraemer, K.H.10
-
29
-
-
19444368979
-
Nonsense-mediated mRNA decay in mammals
-
Maquat L.E. Nonsense-mediated mRNA decay in mammals. J. Cell. Sci. 118 (2005) 1773-1776
-
(2005)
J. Cell. Sci.
, vol.118
, pp. 1773-1776
-
-
Maquat, L.E.1
-
30
-
-
34748912887
-
In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation
-
Yasuda G., Nishi R., Watanabe E., Mori T., Iwai S., Orioli D., Stefanini M., Hanaoka F., and Sugasawa K. In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. Mol. Cell. Biol. 27 (2007) 6606-6614
-
(2007)
Mol. Cell. Biol.
, vol.27
, pp. 6606-6614
-
-
Yasuda, G.1
Nishi, R.2
Watanabe, E.3
Mori, T.4
Iwai, S.5
Orioli, D.6
Stefanini, M.7
Hanaoka, F.8
Sugasawa, K.9
-
31
-
-
10744223717
-
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk
-
Khan S.G., Metin A., Gozukara E., Inui H., Shahlavi T., Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D., and Kraemer K.H. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum. Mol. Genet. 13 (2004) 343-352
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 343-352
-
-
Khan, S.G.1
Metin, A.2
Gozukara, E.3
Inui, H.4
Shahlavi, T.5
Muniz-Medina, V.6
Baker, C.C.7
Ueda, T.8
Aiken, J.R.9
Schneider, T.D.10
Kraemer, K.H.11
-
32
-
-
0026342613
-
An analysis of vertebrate mRNA sequences: intimations of translational control
-
Kozak M. An analysis of vertebrate mRNA sequences: intimations of translational control. J. Cell. Biol. 115 (1991) 887-903
-
(1991)
J. Cell. Biol.
, vol.115
, pp. 887-903
-
-
Kozak, M.1
-
33
-
-
0033061571
-
Initiation of translation in prokaryotes and eukaryotes
-
Kozak M. Initiation of translation in prokaryotes and eukaryotes. Gene 234 (1999) 187-208
-
(1999)
Gene
, vol.234
, pp. 187-208
-
-
Kozak, M.1
-
34
-
-
34948845022
-
Some thoughts about translational regulation: forward and backward glances
-
Kozak M. Some thoughts about translational regulation: forward and backward glances. J. Cell. Biochem. 102 (2007) 280-290
-
(2007)
J. Cell. Biochem.
, vol.102
, pp. 280-290
-
-
Kozak, M.1
-
35
-
-
2442586630
-
Ordered conformational changes in damaged DNA induced by nucleotide excision repair factors
-
Tapias A., Auriol J., Forget D., Enzlin J.H., Scharer O.D., Coin F., Coulombe B., and Egly J.M. Ordered conformational changes in damaged DNA induced by nucleotide excision repair factors. J. Biol. Chem. 279 (2004) 19074-19083
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 19074-19083
-
-
Tapias, A.1
Auriol, J.2
Forget, D.3
Enzlin, J.H.4
Scharer, O.D.5
Coin, F.6
Coulombe, B.7
Egly, J.M.8
-
36
-
-
0034727603
-
Cockayne syndrome and xeroderma pigmentosum
-
Rapin I., Lindenbaum Y., Dickson D.W., Kraemer K.H., and Robbins J.H. Cockayne syndrome and xeroderma pigmentosum. Neurology 55 (2000) 1442-1449
-
(2000)
Neurology
, vol.55
, pp. 1442-1449
-
-
Rapin, I.1
Lindenbaum, Y.2
Dickson, D.W.3
Kraemer, K.H.4
Robbins, J.H.5
-
37
-
-
0015982924
-
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair
-
Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., and Coon H.G. Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann. Intern. Med. 80 (1974) 221-248
-
(1974)
Ann. Intern. Med.
, vol.80
, pp. 221-248
-
-
Robbins, J.H.1
Kraemer, K.H.2
Lutzner, M.A.3
Festoff, B.W.4
Coon, H.G.5
-
38
-
-
0018099297
-
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation
-
Andrews A.D., Barrett S.F., and Robbins J.H. Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. Proc. Natl. Acad. Sci. U.S.A. 75 (1978) 1984-1988
-
(1978)
Proc. Natl. Acad. Sci. U.S.A.
, vol.75
, pp. 1984-1988
-
-
Andrews, A.D.1
Barrett, S.F.2
Robbins, J.H.3
-
39
-
-
0018833458
-
Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus
-
Hananian J., and Cleaver J.E. Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. Clin. Genet. 17 (1980) 39-45
-
(1980)
Clin. Genet.
, vol.17
, pp. 39-45
-
-
Hananian, J.1
Cleaver, J.E.2
-
40
-
-
0032738223
-
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum
-
Quackenbush E.J., Kraemer K.H., Gahl W.A., Schirch V., Whiteman D.A., Levine K., and Levy H.L. Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum. J. Inherit. Metab. Dis. 22 (1999) 915-924
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 915-924
-
-
Quackenbush, E.J.1
Kraemer, K.H.2
Gahl, W.A.3
Schirch, V.4
Whiteman, D.A.5
Levine, K.6
Levy, H.L.7
-
41
-
-
0025820574
-
Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form
-
Robbins J.H., Brumback R.A., Mendiones M., Barrett S.F., Carl J.R., Cho S., Denckla M.B., Ganges M.B., Gerber L.H., and Guthrie R.A. Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain 114 (1991) 1335-1361
-
(1991)
Brain
, vol.114
, pp. 1335-1361
-
-
Robbins, J.H.1
Brumback, R.A.2
Mendiones, M.3
Barrett, S.F.4
Carl, J.R.5
Cho, S.6
Denckla, M.B.7
Ganges, M.B.8
Gerber, L.H.9
Guthrie, R.A.10
-
42
-
-
0027414885
-
Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair
-
Robbins J.H., Brumback R.A., and Moshell A.N. Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair. Eur. Neurol. 33 (1993) 188-190
-
(1993)
Eur. Neurol.
, vol.33
, pp. 188-190
-
-
Robbins, J.H.1
Brumback, R.A.2
Moshell, A.N.3
-
44
-
-
1542344792
-
Consanguinity, caste and deaf-mutism in Punjab, 1921
-
Bittles A.H., Sullivan S.G., and Zhivotovsky L.A. Consanguinity, caste and deaf-mutism in Punjab, 1921. J. Biosoc. Sci. 36 (2004) 221-234
-
(2004)
J. Biosoc. Sci.
, vol.36
, pp. 221-234
-
-
Bittles, A.H.1
Sullivan, S.G.2
Zhivotovsky, L.A.3
-
45
-
-
52949121012
-
Causes of childhood deafness in Pukhtoonkhwa Province of Pakistan and the role of consanguinity
-
Sajjad M., Khattak A.A., Bunn J.E., and Mackenzie I. Causes of childhood deafness in Pukhtoonkhwa Province of Pakistan and the role of consanguinity. J. Laryngol. Otol. (2008) 1-7
-
(2008)
J. Laryngol. Otol.
, pp. 1-7
-
-
Sajjad, M.1
Khattak, A.A.2
Bunn, J.E.3
Mackenzie, I.4
-
46
-
-
33646150467
-
Non-syndromic, autosomal-recessive deafness
-
Petersen M.B., and Willems P.J. Non-syndromic, autosomal-recessive deafness. Clin. Genet. 69 (2006) 371-392
-
(2006)
Clin. Genet.
, vol.69
, pp. 371-392
-
-
Petersen, M.B.1
Willems, P.J.2
|