-
1
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Abecasis, G. R., D. Altshuler, A. Auton, L. D. Brooks, R. M. Durbin, R. A. Gibbs, et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061–1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
Brooks, L.D.4
Durbin, R.M.5
Gibbs, R.A.6
-
2
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A., S. Schmidt, L. Peshkin, V. E. Ramensky, A. Gerasimova, P. Bork, et al. 2010. A method and server for predicting damaging missense mutations. Nat. Methods 7:248–249.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
-
3
-
-
0028026612
-
X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V
-
Anneren, G., and A. Amilon. 1994. X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V. Am. J. Med. Genet. 52:248–250.
-
(1994)
Am. J. Med. Genet.
, vol.52
, pp. 248-250
-
-
Anneren, G.1
Amilon, A.2
-
4
-
-
4344622095
-
The roles of Fgf4 and Fgf8 in limb bud initiation and outgrowth
-
Boulet, A. M., A. M. Moon, B. R. Arenkiel, and M. R. Capecchi. 2004. The roles of Fgf4 and Fgf8 in limb bud initiation and outgrowth. Dev. Biol. 273:361–372.
-
(2004)
Dev. Biol.
, vol.273
, pp. 361-372
-
-
Boulet, A.M.1
Moon, A.M.2
Arenkiel, B.R.3
Capecchi, M.R.4
-
5
-
-
37249032200
-
Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene
-
Brunham, L. R., R. R. Singaraja, T. D. Pape, A. Kejariwal, P. D. Thomas, and M. R. Hayden. 2005. Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. PLoS Genet. 1:e83.
-
(2005)
Plos Genet
, vol.1
, pp. e83
-
-
Brunham, L.R.1
Singaraja, R.R.2
Pape, T.D.3
Kejariwal, A.4
Thomas, P.D.5
Hayden, M.R.6
-
6
-
-
0027177841
-
The treatment of metacarpal synostosis
-
Buck-Gramcko, D., and V. E. Wood. 1993. The treatment of metacarpal synostosis. J. Hand Surg. Am. 18:565–581.
-
(1993)
J. Hand Surg. Am.
, vol.18
, pp. 565-581
-
-
Buck-Gramcko, D.1
Wood, V.E.2
-
7
-
-
0019444599
-
The absent fifth metacarpal
-
Buckwalter, J. A., A. E. Flatt, D. G. Shurr, R. F. Dryer, and W. F. Blair. 1981. The absent fifth metacarpal. J. Hand Surg. Am. 6:364–367.
-
(1981)
J. Hand Surg. Am.
, vol.6
, pp. 364-367
-
-
Buckwalter, J.A.1
Flatt, A.E.2
Shurr, D.G.3
Dryer, R.F.4
Blair, W.F.5
-
8
-
-
1442357385
-
Sporadic case of bilateral fusion of metacarpal 4 and 5
-
Debeer, P. H., M. De Smedt, and J. P. Fryns. 2004. Sporadic case of bilateral fusion of metacarpal 4 and 5. Am. J. Med. Genet. A 125A:214–215.
-
(2004)
Am. J. Med. Genet. A
, vol.125A
, pp. 214-215
-
-
Debeer, P.H.1
de Smedt, M.2
Fryns, J.P.3
-
9
-
-
0017586496
-
Congenital metacarpal malformation
-
Deliss, L. 1977. Congenital metacarpal malformation. Hand 9:275–278.
-
(1977)
Hand
, vol.9
, pp. 275-278
-
-
Deliss, L.1
-
10
-
-
66249120367
-
Human splicing finder: An online bioinformatics tool to predict splicing signals
-
Desmet, F. O., D. Hamroun, M. Lalande, G. Collod-Beroud, M. Claustres, and C. Beroud. 2009. Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 37:e67.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. e67
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
Beroud, C.6
-
11
-
-
0029981898
-
Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure
-
Donovan, W. D., P. W. Brill, P. Winchester, P. F. Giampietro, J. G. Davis, and M. Harbison. 1996. Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure. Skeletal Radiol. 25:269–271.
-
(1996)
Skeletal Radiol
, vol.25
, pp. 269-271
-
-
Donovan, W.D.1
Brill, P.W.2
Winchester, P.3
Giampietro, P.F.4
Davis, J.G.5
Harbison, M.6
-
12
-
-
0942276740
-
A case of bilateral congenital bony syndactyly of the IV-V metacarpals
-
Fm, S. 1961. A case of bilateral congenital bony syndactyly of the IV-V metacarpals. Arkh Anat 41:70–71.
-
(1961)
Arkh Anat
, vol.41
, pp. 70-71
-
-
Fm, S.1
-
13
-
-
0034790920
-
Metacarpal synostosis: A simple classification and a new treatment technique
-
Foucher, G., R. Navarro, J. Medina, and R. K. Khouri. 2001. Metacarpal synostosis: a simple classification and a new treatment technique. Plast. Reconstr. Surg. 108:1225–1231.
-
(2001)
Plast. Reconstr. Surg.
, vol.108
, pp. 1225-1231
-
-
Foucher, G.1
Navarro, R.2
Medina, J.3
Khouri, R.K.4
-
14
-
-
84866738587
-
Metacarpal synostosis: Treatment with a longitudinal osteotomy and bone graft substitute interposition
-
Gottschalk, H. P., M. S. Bednar, M. Moor, and T. R. Light. 2012. Metacarpal synostosis: treatment with a longitudinal osteotomy and bone graft substitute interposition. J. Hand Surg. Am. 37:2074–2081.
-
(2012)
J. Hand Surg. Am.
, vol.37
, pp. 2074-2081
-
-
Gottschalk, H.P.1
Bednar, M.S.2
Moor, M.3
Light, T.R.4
-
15
-
-
0033762985
-
Dackel acts in the ectoderm of the zebrafish pectoral fin bud to maintain AER signaling
-
Grandel, H., B. W. Draper, and S. Schulte-Merker. 2000. Dackel acts in the ectoderm of the zebrafish pectoral fin bud to maintain AER signaling. Development 127:4169–4178.
-
(2000)
Development
, vol.127
, pp. 4169-4178
-
-
Grandel, H.1
Draper, B.W.2
Schulte-Merker, S.3
-
18
-
-
0015395541
-
Metacarpal 4-5 fusion with X-linked recessive inheritance
-
Holmes, L. B., E. Wolf, and O. S. Miettinen. 1972. Metacarpal 4-5 fusion with X-linked recessive inheritance. Am. J. Hum. Genet. 24:562–568.
-
(1972)
Am. J. Hum. Genet.
, vol.24
, pp. 562-568
-
-
Holmes, L.B.1
Wolf, E.2
Miettinen, O.S.3
-
19
-
-
0020964777
-
Congenital fusion of the little and ring finger metacarpal bones
-
Hooper, G., and D. W. Lamb. 1983. Congenital fusion of the little and ring finger metacarpal bones. Hand 15:207–211.
-
(1983)
Hand
, vol.15
, pp. 207-211
-
-
Hooper, G.1
Lamb, D.W.2
-
20
-
-
54549104778
-
Fgf16 is required for cardiomyocyte proliferation in the mouse embryonic heart
-
Hotta, Y., S. Sasaki, M. Konishi, H. Kinoshita, K. Kuwahara, K. Nakao, et al. 2008. Fgf16 is required for cardiomyocyte proliferation in the mouse embryonic heart. Dev. Dyn. 237:2947–2954.
-
(2008)
Dev. Dyn.
, vol.237
, pp. 2947-2954
-
-
Hotta, Y.1
Sasaki, S.2
Konishi, M.3
Kinoshita, H.4
Kuwahara, K.5
Nakao, K.6
-
21
-
-
84884536419
-
Pathophysiological roles of FGF signaling in the heart
-
Itoh, N., and H. Ohta. 2013. Pathophysiological roles of FGF signaling in the heart. Front Physiol. 4:247.
-
(2013)
Front Physiol
, vol.4
, pp. 247
-
-
Itoh, N.1
Ohta, H.2
-
22
-
-
4744372082
-
Evolution of the Fgf and Fgfr gene families
-
Itoh, N., and D. M. Ornitz. 2004. Evolution of the Fgf and Fgfr gene families. Trends Genet. 20:563–569.
-
(2004)
Trends Genet
, vol.20
, pp. 563-569
-
-
Itoh, N.1
Ornitz, D.M.2
-
23
-
-
84883149881
-
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion
-
Jamsheer, A, T. Zemojtel, M. Kolanczyk, S. Stricker, J. Hecht, P. Krawitz, et al. 2013. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. J. Med. Genet. 50:579– 584.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 579-584
-
-
Jamsheer, A.1
Zemojtel, T.2
Kolanczyk, M.3
Stricker, S.4
Hecht, J.5
Krawitz, P.6
-
24
-
-
79959508204
-
Bilateral congenital synostosis of fourth and fifth metacarpals
-
Kakish, S., H. Jamil, and A. Siddique. 2011. Bilateral congenital synostosis of fourth and fifth metacarpals. Eur. J. Orthop. Surg. Traumatol. 21:351–352.
-
(2011)
Eur. J. Orthop. Surg. Traumatol.
, vol.21
, pp. 351-352
-
-
Kakish, S.1
Jamil, H.2
Siddique, A.3
-
25
-
-
0030943792
-
Treatment for congenital synostosis of the fourth and fifth metacarpals with the hemicallotasis technique
-
Kawabata, H., N. Yasui, Y. H. Che, and A. Hirooka. 1997. Treatment for congenital synostosis of the fourth and fifth metacarpals with the hemicallotasis technique. Plast. Reconstr. Surg. 99:2061–2065.
-
(1997)
Plast. Reconstr. Surg.
, vol.99
, pp. 2061-2065
-
-
Kawabata, H.1
Yasui, N.2
Che, Y.H.3
Hirooka, A.4
-
26
-
-
0034697007
-
Fibroblast growth factor-16 is a growth factor for embryonic brown adipocytes
-
Konishi, M., T. Mikami, M. Yamasaki, A. Miyake, and N. Itoh. 2000. Fibroblast growth factor-16 is a growth factor for embryonic brown adipocytes. J. Biol. Chem. 275:12119– 12122.
-
(2000)
J. Biol. Chem
, vol.275
, pp. 12119-12122
-
-
Konishi, M.1
Mikami, T.2
Yamasaki, M.3
Miyake, A.4
Itoh, N.5
-
27
-
-
0942298507
-
Erbliche synostosen der ossa metacarpalia IV und V
-
Lerch, H. 1948. Erbliche synostosen der ossa metacarpalia IV und V. Z. Orthop. Ihre Grenzgeb. 78:13–16.
-
(1948)
Z. Orthop. Ihre Grenzgeb.
, vol.78
, pp. 13-16
-
-
Lerch, H.1
-
28
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
Li, H., B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, et al. 2009. The sequence alignment/map format and SAMtools. Bioinformatics 25:2078–2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
-
29
-
-
0942279748
-
A family with X-linked recessive fusion of metacarpals IV and V
-
Lonardo, F., M. Della Monica, G. Riccardi, I. Riccio, V. Riccio, and G. Scarano. 2004. A family with X-linked recessive fusion of metacarpals IV and V. Am. J. Med. Genet. A 124A:407–410.
-
(2004)
Am. J. Med. Genet. A
, vol.124A
, pp. 407-410
-
-
Lonardo, F.1
della Monica, M.2
Riccardi, G.3
Riccio, I.4
Riccio, V.5
Scarano, G.6
-
30
-
-
46049119998
-
FGF-16 is required for embryonic heart development
-
Lu, S. Y., F. Sheikh, P. C. Sheppard, A. Fresnoza, M. L. Duckworth, K. A. Detillieux, et al. 2008a. FGF-16 is required for embryonic heart development. Biochem. Biophys. Res. Commun. 373:270–274.
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.373
, pp. 270-274
-
-
Lu, S.Y.1
Sheikh, F.2
Sheppard, P.C.3
Fresnoza, A.4
Duckworth, M.L.5
Detillieux, K.A.6
-
31
-
-
48249157401
-
FGF-16 is released from neonatal cardiac myocytes and alters growth-related signaling: A possible role in postnatal development
-
Lu, S. Y., D. P. Sontag, K. A. Detillieux, and P. A. Cattini. 2008b. FGF-16 is released from neonatal cardiac myocytes and alters growth-related signaling: a possible role in postnatal development. Am. J. Physiol. Cell Physiol. 294:C1242– C1249.
-
(2008)
Am. J. Physiol. Cell Physiol.
, vol.294
, pp. C1242-C1249
-
-
Lu, S.Y.1
Sontag, D.P.2
Detillieux, K.A.3
Cattini, P.A.4
-
32
-
-
77955885703
-
Embryonic survival and severity of cardiac and craniofacial defects are affected by genetic background in fibroblast growth factor-16 null mice
-
Lu, S. Y., Y. Jin, X. Li, P. Sheppard, M. E. Bock, F. Sheikh, et al. 2010. Embryonic survival and severity of cardiac and craniofacial defects are affected by genetic background in fibroblast growth factor-16 null mice. DNA Cell Biol. 29:407–415.
-
(2010)
DNA Cell Biol
, vol.29
, pp. 407-415
-
-
Lu, S.Y.1
Jin, Y.2
Li, X.3
Sheppard, P.4
Bock, M.E.5
Sheikh, F.6
-
33
-
-
43749110077
-
Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning
-
Mariani, F. V., C. P. Ahn, and G. R. Martin. 2008. Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning. Nature 453:401–405.
-
(2008)
Nature
, vol.453
, pp. 401-405
-
-
Mariani, F.V.1
Ahn, C.P.2
Martin, G.R.3
-
34
-
-
2642595047
-
The roles of FGFs in the early development of vertebrate limbs
-
Martin, G. R. 1998. The roles of FGFs in the early development of vertebrate limbs. Genes Dev. 12:1571–1586.
-
(1998)
Genes Dev
, vol.12
, pp. 1571-1586
-
-
Martin, G.R.1
-
35
-
-
84879421777
-
Angiotensin II-induced cardiac hypertrophy and fibrosis are promoted in mice lacking Fgf16
-
Matsumoto, E., S. Sasaki, H. Kinoshita, T. Kito, H. Ohta, M. Konishi, et al. 2013. Angiotensin II-induced cardiac hypertrophy and fibrosis are promoted in mice lacking Fgf16. Genes Cells 18:544–553.
-
(2013)
Genes Cells
, vol.18
, pp. 544-553
-
-
Matsumoto, E.1
Sasaki, S.2
Kinoshita, H.3
Kito, T.4
Ohta, H.5
Konishi, M.6
-
36
-
-
0023857992
-
Congenital synostosis between the fourth and fifth metacarpal bones
-
Miura, T. 1988. Congenital synostosis between the fourth and fifth metacarpal bones. J. Hand Surg. Am. 13:83–88.
-
(1988)
J. Hand Surg. Am.
, vol.13
, pp. 83-88
-
-
Miura, T.1
-
37
-
-
33745742038
-
Fgf16 is essential for pectoral fin bud formation in zebrafish
-
Nomura, R., E. Kamei, Y. Hotta, M. Konishi, A. Miyake, and N. Itoh. 2006. Fgf16 is essential for pectoral fin bud formation in zebrafish. Biochem. Biophys. Res. Commun. 347:340–346.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.347
, pp. 340-346
-
-
Nomura, R.1
Kamei, E.2
Hotta, Y.3
Konishi, M.4
Miyake, A.5
Itoh, N.6
-
38
-
-
0027482174
-
Clinical features and treatment of congenital fusion of the small and ring finger metacarpals
-
Ogino, T., and H. Kato. 1993. Clinical features and treatment of congenital fusion of the small and ring finger metacarpals. J. Hand Surg. Am. 18:995–1003.
-
(1993)
J. Hand Surg. Am.
, vol.18
, pp. 995-1003
-
-
Ogino, T.1
Kato, H.2
-
39
-
-
0009311871
-
Kleine beitrage zur vererbungswissenschaft
-
Orel, H. 1928. Kleine beitrage zur vererbungswissenschaft. Z. Ges. Anat. 14:244–252.
-
(1928)
Z. Ges. Anat.
, vol.14
, pp. 244-252
-
-
Orel, H.1
-
40
-
-
34249680274
-
53 activation by knockdown technologies
-
Robu, M. E., J. D. Larson, A. Nasevicius, S. Beiraghi, C. Brenner, S. A. Farber, et al. 2007. p53 activation by knockdown technologies. PLoS Genet. 3:e78.
-
(2007)
Plos Genet
, vol.3
, pp. e78
-
-
Robu, M.E.1
Larson, J.D.2
Nasevicius, A.3
Beiraghi, S.4
Brenner, C.5
Farber, S.A.6
-
41
-
-
84884290194
-
FGF-2 and FGF-16 Protect Isolated Perfused Mouse Hearts from Acute Doxorubicin-Induced Contractile Dysfunction
-
Sontag, D. P., J. Wang, E. Kardami, and P. A. Cattini. 2013. FGF-2 and FGF-16 Protect Isolated Perfused Mouse Hearts from Acute Doxorubicin-Induced Contractile Dysfunction. Cardiovasc. Toxicol. 13:244–253.
-
(2013)
Cardiovasc. Toxicol.
, vol.13
, pp. 244-253
-
-
Sontag, D.P.1
Wang, J.2
Kardami, E.3
Cattini, P.A.4
-
42
-
-
0031442636
-
Congenital metacarpal synostosis treated by longitudinal osteotomy and placement of a silicone wedge
-
Ueba, Y., and Y. Seto. 1997. Congenital metacarpal synostosis treated by longitudinal osteotomy and placement of a silicone wedge. Handchir. Mikrochir. Plast. Chir. 29:297–302.
-
(1997)
Handchir. Mikrochir. Plast. Chir.
, vol.29
, pp. 297-302
-
-
Ueba, Y.1
Seto, Y.2
-
43
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang, K., M. Li, and H. Hakonarson. 2010. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38:e164.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
44
-
-
77956634421
-
Congenital metacarpal malformation: Fifth metacarpal complete absence or fourth and fifth metacarpal synostosis
-
Yuan, C., S. Gou, and Y. OuYang. 2010. Congenital metacarpal malformation: fifth metacarpal complete absence or fourth and fifth metacarpal synostosis. ANZ J. Surg. 80:663–664.
-
(2010)
ANZ J. Surg.
, vol.80
, pp. 663-664
-
-
Yuan, C.1
Gou, S.2
Ouyang, Y.3
|