-
1
-
-
0042736653
-
How clinicians add to knowledge of development
-
Donnai, D. & Read, A. P. How clinicians add to knowledge of development. Lancet 362, 477-484 (2003).
-
(2003)
Lancet
, vol.362
, pp. 477-484
-
-
Donnai, D.1
Read, A.P.2
-
2
-
-
0035998736
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh, A. et al. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 30, 52-55 (2002).
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 52-55
-
-
Hamosh, A.1
-
3
-
-
0029025862
-
Computer systems in dysmorphology
-
Evans, C. D. Computer systems in dysmorphology. Clin. Dysmorphol. 4, 185-201 (1995).
-
(1995)
Clin. Dysmorphol.
, vol.4
, pp. 185-201
-
-
Evans, C.D.1
-
4
-
-
0642311815
-
Identifying functional relationships among human genes by systematic analysis of biological literature
-
Tao, Y. C. & Leibel, R. L. Identifying functional relationships among human genes by systematic analysis of biological literature. BMC Bioinformatics 3, 16 (2002).
-
(2002)
BMC Bioinformatics
, vol.3
, pp. 16
-
-
Tao, Y.C.1
Leibel, R.L.2
-
5
-
-
0036649742
-
Association of genes to genetically inherited diseases using data mining
-
Perez-Iratxeta, C., Bork, P. & Andrade, M. A. Association of genes to genetically inherited diseases using data mining. Nature Genet. 31, 316-319 (2002).
-
(2002)
Nature Genet.
, vol.31
, pp. 316-319
-
-
Perez-Iratxeta, C.1
Bork, P.2
Andrade, M.A.3
-
6
-
-
0037265647
-
A new web-based data mining tool for the identification of candidate genes for human genetic disorders
-
van Driel, M. A., Cuelenaere, K., Kemmeren, P. P., Leunissen, J. A. & Brunner, H. G. A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur. J. Hum. Genet. 11, 57-63 (2003).
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 57-63
-
-
Van Driel, M.A.1
Cuelenaere, K.2
Kemmeren, P.P.3
Leunissen, J.A.4
Brunner, H.G.5
-
7
-
-
0037580196
-
A similarity-based method for genome-wide prediction of disease-relevant human genes
-
Freudenberg, J. & Propping P. A similarity-based method for genome-wide prediction of disease-relevant human genes. Bioinformatics 18 (Suppl. 2), S110-S115 (2002).
-
(2002)
Bioinformatics
, vol.18
, Issue.SUPPL. 2
-
-
Freudenberg, J.1
Propping, P.2
-
8
-
-
0038670579
-
The human phenome project
-
Freimer, N. & Sabatti, C. The human phenome project. Nature Genet. 34, 15-21 (2003).
-
(2003)
Nature Genet.
, vol.34
, pp. 15-21
-
-
Freimer, N.1
Sabatti, C.2
-
9
-
-
0024454779
-
Syndromology: An updated conceptual overview, III. Syndrome delineation
-
Cohen, M. M. Syndromology: an updated conceptual overview, III. Syndrome delineation. Int. J. Oral. Maxillofac. Surg. 18, 281-285 (1989).
-
(1989)
Int. J. Oral. Maxillofac. Surg.
, vol.18
, pp. 281-285
-
-
Cohen, M.M.1
-
10
-
-
0019447461
-
Spectrum of anomalies in the Meckel syndrome, or: 'Maybe there is a malformation syndrome with at least one constant anomaly'
-
Fraser, F. C. & Lytwyn, A. Spectrum of anomalies in the Meckel syndrome, or: 'Maybe there is a malformation syndrome with at least one constant anomaly'. Am. J. Med. Genet. 9, 67-73 (1981).
-
(1981)
Am. J. Med. Genet.
, vol.9
, pp. 67-73
-
-
Fraser, F.C.1
Lytwyn, A.2
-
11
-
-
0014625336
-
On lumpers and splitters, or the nosology of genetic disease
-
McKusick, V. A. On lumpers and splitters, or the nosology of genetic disease. Perspect. Biol. Med. 12, 298-312 (1969).
-
(1969)
Perspect. Biol. Med.
, vol.12
, pp. 298-312
-
-
McKusick, V.A.1
-
12
-
-
0028910444
-
Numerical syndromology: A mathematical approach to the nosology of complex phenotypes
-
Verloes, A. Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. Am. J. Med. Genet. 55, 433-443 (1995).
-
(1995)
Am. J. Med. Genet.
, vol.55
, pp. 433-443
-
-
Verloes, A.1
-
13
-
-
0021962575
-
Numerical classification of syndromes
-
Preus, M. Numerical classification of syndromes. Hosp. Pract. 20, 111-118, 127-129 (1985).
-
(1985)
Hosp. Pract.
, vol.20
, pp. 111-118
-
-
Preus, M.1
-
14
-
-
0028087876
-
Phenotypic diversity, allelic series and modifier genes
-
Romeo, G. & McKusick, V. A. Phenotypic diversity, allelic series and modifier genes. Nature Genet. 7, 451-453 (1994).
-
(1994)
Nature Genet.
, vol.7
, pp. 451-453
-
-
Romeo, G.1
McKusick, V.A.2
-
15
-
-
0031881532
-
Lumping and splitting: Molecular biology in the genetics clinic
-
Biesecker, L. G. Lumping and splitting: molecular biology in the genetics clinic. Clin. Genet. 53, 3-7 (1998).
-
(1998)
Clin. Genet.
, vol.53
, pp. 3-7
-
-
Biesecker, L.G.1
-
16
-
-
0017646013
-
The polythetic (phenotypic community) system of classifying human malformation syndromes
-
Pinsky, L. The polythetic (phenotypic community) system of classifying human malformation syndromes. Birth Defects Orig. Artic. Ser. 13, 13-30 (1977).
-
(1977)
Birth Defects Orig. Artic. Ser.
, vol.13
, pp. 13-30
-
-
Pinsky, L.1
-
17
-
-
0029857869
-
Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype
-
Lindeman-Kusse, M. C., Van Haeringen, A., Hoorweg-Nijman, J. J. & Brunner, H. G. Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype. Am. J. Med. Genet. 66, 104-112 (1996).
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 104-112
-
-
Lindeman-Kusse, M.C.1
Van Haeringen, A.2
Hoorweg-Nijman, J.J.3
Brunner, H.G.4
-
18
-
-
77049298733
-
The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type
-
Morton, N. E. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am. J. Hum. Genet. 8, 80-96 (1956).
-
(1956)
Am. J. Hum. Genet.
, vol.8
, pp. 80-96
-
-
Morton, N.E.1
-
20
-
-
18644367387
-
Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
-
Roberts, E. et al. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J. Med. Genet. 39, 718-721 (2002).
-
(2002)
J. Med. Genet.
, vol.39
, pp. 718-721
-
-
Roberts, E.1
-
21
-
-
0038744241
-
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
-
Beales, P. L. et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am. J. Hum. Genet. 72, 1187-1199 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1187-1199
-
-
Beales, P.L.1
-
22
-
-
0035135676
-
XLMR genes: Update 2000
-
Chiurazzi, P., Hamel, B. C. & Neri, G. XLMR genes: update 2000. Eur. J. Hum. Genet. 9, 71-81 (2001).
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 71-81
-
-
Chiurazzi, P.1
Hamel, B.C.2
Neri, G.3
-
23
-
-
0037341463
-
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
-
Weil, D. et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum. Mol. Genet. 12, 463-471 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 463-471
-
-
Weil, D.1
-
24
-
-
0018946141
-
Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids
-
Zakrzewski, S. & Sperling, K. Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids. Hum. Genet. 56, 81-84 (1980).
-
(1980)
Hum. Genet.
, vol.56
, pp. 81-84
-
-
Zakrzewski, S.1
Sperling, K.2
-
25
-
-
0141484612
-
A novel ubiquitin ligase is deficient in Fanconi anemia
-
Meetei, A. R. et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nature Genet. 35, 165-170 (2003).
-
(2003)
Nature Genet.
, vol.35
, pp. 165-170
-
-
Meetei, A.R.1
-
26
-
-
0036156978
-
Mutations in each of the five subunits of translation initiation factor eIF 2B can cause leukoencephalopathy with vanishing white matter
-
van der Knaap, M. S. et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann. Neurol. 51, 264-270 (2002).
-
(2002)
Ann. Neurol.
, vol.51
, pp. 264-270
-
-
Van Der Knaap, M.S.1
-
27
-
-
18544390923
-
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype
-
Paloneva, J. et al. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am. J. Hum. Genet. 71, 656-662 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 656-662
-
-
Paloneva, J.1
-
28
-
-
0035942359
-
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
-
Cormand, B. et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 56, 1059-1069 (2001).
-
(2001)
Neurology
, vol.56
, pp. 1059-1069
-
-
Cormand, B.1
-
29
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
Beltran-Valero de Bernabe, D. et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71, 1033-1043 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1033-1043
-
-
Beltran-Valero De Bernabe, D.1
-
30
-
-
0033906468
-
Transcription factor hierarchy in Waardenburg syndrome: Regulation of MITF expression by SOX 10 and PAX3
-
Potterf, S. B., Furumura, M., Dunn, K. J., Arnheiter, H. & Pavan, W. J. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum. Genet. 107, 1-6 (2000).
-
(2000)
Hum. Genet.
, vol.107
, pp. 1-6
-
-
Potterf, S.B.1
Furumura, M.2
Dunn, K.J.3
Arnheiter, H.4
Pavan, W.J.5
-
31
-
-
0034641596
-
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
-
Bondurand, N. et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum. Mol. Genet. 9, 1907-1917 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1907-1917
-
-
Bondurand, N.1
-
32
-
-
0036844229
-
Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
-
Ming, J. E. & Muenke, M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am. J. Hum. Genet. 71, 1017-1032 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1017-1032
-
-
Ming, J.E.1
Muenke, M.2
-
33
-
-
0041308085
-
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
-
Badano, J. L. et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum. Mol. Genet. 12, 1651-1659 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1651-1659
-
-
Badano, J.L.1
-
34
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley, S. J. et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 425, 628-633 (2003).
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
-
35
-
-
0027174179
-
DNA repair. Engagement with transcription
-
Bootsma, D. & Hoeijmakers, J. H. DNA repair. Engagement with transcription. Nature, 363, 114-115 (1993).
-
(1993)
Nature
, vol.363
, pp. 114-115
-
-
Bootsma, D.1
Hoeijmakers, J.H.2
-
36
-
-
0035176067
-
The xeroderma pigmentosum group D (XPD) gene: One gene, two functions, three diseases
-
Lehmann, A. R. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev. 15, 15-23 (2001).
-
(2001)
Genes Dev.
, vol.15
, pp. 15-23
-
-
Lehmann, A.R.1
-
37
-
-
0036087784
-
The p63 gene in EEC and other syndromes
-
Brunner, H. G., Hamel, B. C. & Van Bokhoven, H. The p63 gene in EEC and other syndromes. J. Med. Genet, 39, 377-381 (2002).
-
(2002)
J. Med. Genet.
, vol.39
, pp. 377-381
-
-
Brunner, H.G.1
Hamel, B.C.2
Van Bokhoven, H.3
-
38
-
-
0242268946
-
The genetics of adult-onset neuropsychiatric disease: Complexities and conundra?
-
Kennedy, J. L., Farrer, L. A., Andreasen, N. C., Mayeux, R. & St George-Hyslop, P. The genetics of adult-onset neuropsychiatric disease: complexities and conundra? Science 302, 822-826 (2003).
-
(2003)
Science
, vol.302
, pp. 822-826
-
-
Kennedy, J.L.1
Farrer, L.A.2
Andreasen, N.C.3
Mayeux, R.4
St. George-Hyslop, P.5
-
39
-
-
0345600247
-
A protein interaction map of Drosophila melanogaster
-
Giot, L. et al. A protein interaction map of Drosophila melanogaster. Science 302, 1727-1736 (2003).
-
(2003)
Science
, vol.302
, pp. 1727-1736
-
-
Giot, L.1
-
40
-
-
0141993704
-
A gene-co-expression network for global discovery of conserved genetic modules
-
Stuart, J. M., Segal, E., Koller, D. & Kim, S. K. A gene-co-expression network for global discovery of conserved genetic modules. Science 302, 249-255 (2003).
-
(2003)
Science
, vol.302
, pp. 249-255
-
-
Stuart, J.M.1
Segal, E.2
Koller, D.3
Kim, S.K.4
-
41
-
-
1542787787
-
POCUS mining genomic sequence annotation to predict disease genes
-
Turner, F. S., Clutterbuck, D. R. & Semple, C. A. POCUS: mining genomic sequence annotation to predict disease genes. Genome Biol. 4, R75 (2003).
-
(2003)
Genome Biol.
, vol.4
-
-
Turner, F.S.1
Clutterbuck, D.R.2
Semple, C.A.3
-
42
-
-
0029989103
-
An analysis of statistical term strength and its use in the indexing and retrieval of molecular biology texts
-
Wilbur, W. J. & Yang, Y. An analysis of statistical term strength and its use in the indexing and retrieval of molecular biology texts. Comput. Biol. Med. 26, 209-222 (1996).
-
(1996)
Comput. Biol. Med.
, vol.26
, pp. 209-222
-
-
Wilbur, W.J.1
Yang, Y.2
-
44
-
-
0034641590
-
+-ATPase cause infantile malignant osteopetrosis
-
+-ATPase cause infantile malignant osteopetrosis. Hum. Mol. Genet. 9, 2059-2063 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2059-2063
-
-
Kornak, U.1
-
45
-
-
0035951282
-
Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man
-
Kornak, U. et al. Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104, 205-215 (2001).
-
(2001)
Cell
, vol.104
, pp. 205-215
-
-
Kornak, U.1
-
46
-
-
0037393446
-
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
-
Chalhoub, N. et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nature Med. 9, 399-406 (2003).
-
(2003)
Nature Med.
, vol.9
, pp. 399-406
-
-
Chalhoub, N.1
-
47
-
-
0034805353
-
FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate
-
Bowe, A. E. et al. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem. Biophys. Res. Commun. 284, 977-981 (2001).
-
(2001)
Biochem. Biophys. Res. Commun.
, vol.284
, pp. 977-981
-
-
Bowe, A.E.1
-
48
-
-
14344279878
-
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
-
Shimada, T. et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc. Natl Acad. Sci. USA. 98, 6500-6505 (2001).
-
(2001)
Proc. Natl. Acad. Sci. USA.
, vol.98
, pp. 6500-6505
-
-
Shimada, T.1
-
49
-
-
0036165181
-
Molecular-pathogenetic classification of genetic disorders of the skeleton
-
Superti-Furga, A., Bonafe, L. & Rimoin, D. L. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am. J. Med. Genet. 106, 282-293 (2001).
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 282-293
-
-
Superti-Furga, A.1
Bonafe, L.2
Rimoin, D.L.3
-
50
-
-
0022293662
-
Pattern recognition in bone dysplasias
-
Spranger, J. Pattern recognition in bone dysplasias. Prog. Clin. Biol. Res. 200, 315-342 (1985).
-
(1985)
Prog. Clin. Biol. Res.
, vol.200
, pp. 315-342
-
-
Spranger, J.1
-
51
-
-
12144286665
-
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
-
Krakow, D. et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genet. 36, 405-410 (2004).
-
(2004)
Nature Genet.
, vol.36
, pp. 405-410
-
-
Krakow, D.1
-
52
-
-
0021367917
-
The Marshall and Stickler syndromes: Objective rejection of lumping
-
Ayme, S. & Preus, M. The Marshall and Stickler syndromes: objective rejection of lumping. J. Med. Genet. 21, 34-38 (1984).
-
(1984)
J. Med. Genet.
, vol.21
, pp. 34-38
-
-
Ayme, S.1
Preus, M.2
-
53
-
-
0033365199
-
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
-
Annunen, S. et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am. J. Hum. Genet. 65, 974-983 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 974-983
-
-
Annunen, S.1
-
54
-
-
0030958929
-
Oto-spondylomegaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL 11A2 gene
-
van Steensel, M. A., Buma, P., de Waal Malefijt, M. C., van den Hoogen, F. H. & Brunner, H. G. Oto-spondylomegaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am. J. Med. Genet. 70, 315-323 (1997).
-
(1997)
Am. J. Med. Genet.
, vol.70
, pp. 315-323
-
-
Van Steensel, M.A.1
Buma, P.2
De Waal Malefijt, M.C.3
Van Den Hoogen, F.H.4
Brunner, H.G.5
-
55
-
-
0023445013
-
Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome?
-
Donnai, D., Burn, J. & Hughes, H. Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? Am. J. Med. Genet. 28, 741-743 (1987).
-
(1987)
Am. J. Med. Genet.
, vol.28
, pp. 741-743
-
-
Donnai, D.1
Burn, J.2
Hughes, H.3
-
56
-
-
0033925849
-
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: Clinical and molecular analysis
-
Killoran, C. E., Abbott, M., McKusick, V. A. & Biesecker, L. G. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. Clin. Genet. 58, 28-30 (2000).
-
(2000)
Clin. Genet.
, vol.58
, pp. 28-30
-
-
Killoran, C.E.1
Abbott, M.2
McKusick, V.A.3
Biesecker, L.G.4
|