-
1
-
-
0031637399
-
Growth disorders caused by genetic defects in the growth hormone pathway
-
Cogan J.D., Phillips J.A. 3rd Growth disorders caused by genetic defects in the growth hormone pathway. Adv. Pediatr. 45:1998;337-361
-
(1998)
Adv. Pediatr.
, vol.45
, pp. 337-361
-
-
Cogan, J.D.1
Phillips III, J.A.2
-
2
-
-
0004256303
-
-
S. Melmed. Cambridge, MA: Blackwell Sci
-
Melmed S. The Pituitary. 1995;Blackwell Sci, Cambridge, MA
-
(1995)
The Pituitary
-
-
-
3
-
-
0037110974
-
International nosology and classification of constitutional disorders of bone (2001)
-
Hall C.M. International nosology and classification of constitutional disorders of bone (2001). Am. J. Med. Genet. 113:2002;65-77
-
(2002)
Am. J. Med. Genet.
, vol.113
, pp. 65-77
-
-
Hall, C.M.1
-
6
-
-
0034464005
-
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
-
Vajo Z., Francomano C.A., Wilkin D.J. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr. Rev. 21:2000;23-39
-
(2000)
Endocr. Rev.
, vol.21
, pp. 23-39
-
-
Vajo, Z.1
Francomano, C.A.2
Wilkin, D.J.3
-
7
-
-
0031805706
-
Epidemiology and aetiology of male infertility
-
Irvine D.S. Epidemiology and aetiology of male infertility. Hum. Reprod. 13(Suppl 1):1998;33-44
-
(1998)
Hum. Reprod.
, vol.13
, Issue.SUPPL. 1
, pp. 33-44
-
-
Irvine, D.S.1
-
8
-
-
0036798824
-
Genetic dissection of mammalian fertility pathways
-
(Suppl)
-
Matzuk M.M., Lamb D.J. Genetic dissection of mammalian fertility pathways. Nat. Cell Biol. 4:2002;41-49. (Suppl)
-
(2002)
Nat. Cell Biol.
, vol.4
, pp. 41-49
-
-
Matzuk, M.M.1
Lamb, D.J.2
-
9
-
-
0029861824
-
Growth differentiation factor-9 is required during early ovarian folliculogenesis
-
Dong J., Albertini D.F., Nishimori K., Kumar T.R., Lu N., Matzuk M.M. Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature. 383:1996;531-535
-
(1996)
Nature
, vol.383
, pp. 531-535
-
-
Dong, J.1
Albertini, D.F.2
Nishimori, K.3
Kumar, T.R.4
Lu, N.5
Matzuk, M.M.6
-
10
-
-
0031011488
-
The putative chaperone calmegin is required for sperm fertility
-
Ikawa M., Wada I., Kominami K., Watanabe D., Toshimori K., Nishimune Y., Okabe M. The putative chaperone calmegin is required for sperm fertility. Nature. 387:1997;607-611
-
(1997)
Nature
, vol.387
, pp. 607-611
-
-
Ikawa, M.1
Wada, I.2
Kominami, K.3
Watanabe, D.4
Toshimori, K.5
Nishimune, Y.6
Okabe, M.7
-
11
-
-
0035578387
-
Calmegin is required for fertilin α/β heterodimerization and sperm fertility
-
Ikawa M., Nakanishi T., Yamada S., Wada I., Kominami K., Tanaka H., Nozaki M., Nishimune Y., Okabe M. Calmegin is required for fertilin α/β heterodimerization and sperm fertility. Dev. Biol. 240:2001;254-261
-
(2001)
Dev. Biol.
, vol.240
, pp. 254-261
-
-
Ikawa, M.1
Nakanishi, T.2
Yamada, S.3
Wada, I.4
Kominami, K.5
Tanaka, H.6
Nozaki, M.7
Nishimune, Y.8
Okabe, M.9
-
12
-
-
0019305553
-
New mouse dw allele: Genetic location and effects on lifespan and growth hormone levels
-
Eicher E.M., Beamer W.G. New mouse dw allele: genetic location and effects on lifespan and growth hormone levels. J. Hered. 71:1980;187-190
-
(1980)
J. Hered.
, vol.71
, pp. 187-190
-
-
Eicher, E.M.1
Beamer, W.G.2
-
14
-
-
0028365880
-
PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouse
-
Taylor B., Navin A., Phillips S. PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouse. Genomics. 21:1994;626-632
-
(1994)
Genomics
, vol.21
, pp. 626-632
-
-
Taylor, B.1
Navin, A.2
Phillips, S.3
-
15
-
-
0028302127
-
A genetic map of the mouse with 4,006 simple sequence length polymorphisms
-
Dietrich W.F., Miller J.C., Steen R.G., Merchant M., Damron D., Nahf R., Gross A., Joyce D.C., Wessel M., Dredge R.D., Marquis A., Stein L.D., Goodman N., Page D.C., Lander E.S. A genetic map of the mouse with 4, 006 simple sequence length polymorphisms. Nat. Genet. 7:1994;220-245
-
(1994)
Nat. Genet.
, vol.7
, pp. 220-245
-
-
Dietrich, W.F.1
Miller, J.C.2
Steen, R.G.3
Merchant, M.4
Damron, D.5
Nahf, R.6
Gross, A.7
Joyce, D.C.8
Wessel, M.9
Dredge, R.D.10
Marquis, A.11
Stein, L.D.12
Goodman, N.13
Page, D.C.14
Lander, E.S.15
-
16
-
-
13344287050
-
A comprehensive genetic map of the mouse genome
-
Dietrich W.F., Miller J., Steen R., Merchant M.A., Damron-Boles D., Husain Z., Dredge R., Daly M.J., Ingalls K.A., O'Connor T.J., Evans C.A., DeAngelis M.M., Levinson D.M., Kruglyak L., Goodman N., Copeland N.G., Jenkins N.A., Hawkins T.L., Stein L., Page D.C., Lander E.S. A comprehensive genetic map of the mouse genome. Nature. 380:1996;149-152
-
(1996)
Nature
, vol.380
, pp. 149-152
-
-
Dietrich, W.F.1
Miller, J.2
Steen, R.3
Merchant, M.A.4
Damron-Boles, D.5
Husain, Z.6
Dredge, R.7
Daly, M.J.8
Ingalls, K.A.9
O'Connor, T.J.10
Evans, C.A.11
Deangelis, M.M.12
Levinson, D.M.13
Kruglyak, L.14
Goodman, N.15
Copeland, N.G.16
Jenkins, N.A.17
Hawkins, T.L.18
Stein, L.19
Page, D.C.20
Lander, E.S.21
more..
-
17
-
-
0027679382
-
Genome maps IV 1993. Wall chart
-
Copeland N.G., Gilbert D.J., Jenkins N.A., Nadeau J.H., Eppig J.T., Maltais L.J., Miller J.C., Dietrich W.F., Steen R.G., Lincoln S.E., et al. Genome maps IV 1993. Wall chart. Science. 262:1993;67-82
-
(1993)
Science
, vol.262
, pp. 67-82
-
-
Copeland, N.G.1
Gilbert, D.J.2
Jenkins, N.A.3
Nadeau, J.H.4
Eppig, J.T.5
Maltais, L.J.6
Miller, J.C.7
Dietrich, W.F.8
Steen, R.G.9
Lincoln, S.E.10
-
18
-
-
0037246585
-
Ensembl 2002: Accommodating comparative genomics
-
Clamp M., Andrews D., Barker D., Bevan P., Cameron G., Chen Y., Clark L., Cox T., Cuff J., Curwen V., Down T., Durbin R., Eyras E., Gilbert J., Hammond M., Hubbard T., Kasprzyk A., Keefe D., Lehvaslaiho H., Iyer V., Melsopp C., Mongin E., Pettett R., Potter S., Rust A., Schmidt E., Searle S., Slater G., Smith J., Spooner W., Stabenau A., Stalker J., Stupka E., Ureta-Vidal A., Vastrik I., Birney E. Ensembl 2002: accommodating comparative genomics. Nucleic Acids Res. 31:2003;38-42
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 38-42
-
-
Clamp, M.1
Andrews, D.2
Barker, D.3
Bevan, P.4
Cameron, G.5
Chen, Y.6
Clark, L.7
Cox, T.8
Cuff, J.9
Curwen, V.10
Down, T.11
Durbin, R.12
Eyras, E.13
Gilbert, J.14
Hammond, M.15
Hubbard, T.16
Kasprzyk, A.17
Keefe, D.18
Lehvaslaiho, H.19
Iyer, V.20
Melsopp, C.21
Mongin, E.22
Pettett, R.23
Potter, S.24
Rust, A.25
Schmidt, E.26
Searle, S.27
Slater, G.28
Smith, J.29
Spooner, W.30
Stabenau, A.31
Stalker, J.32
Stupka, E.33
Ureta-Vidal, A.34
Vastrik, I.35
Birney, E.36
more..
-
19
-
-
0037252705
-
Database resources of the National Center for Biotechnology
-
Wheeler D.L., Church D.M., Federhen S., Lash A.E., Madden T.L., Pontius J.U., Schuler G.D., Schriml L.M., Sequeira E., Tatusova T.A., Wagner L. Database resources of the National Center for Biotechnology. Nucleic Acids Res. 31:2003;28-33
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 28-33
-
-
Wheeler, D.L.1
Church, D.M.2
Federhen, S.3
Lash, A.E.4
Madden, T.L.5
Pontius, J.U.6
Schuler, G.D.7
Schriml, L.M.8
Sequeira, E.9
Tatusova, T.A.10
Wagner, L.11
-
20
-
-
0028943780
-
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
-
Schipani E., Kruse K., Juppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. 268:1995;98-100
-
(1995)
Science
, vol.268
, pp. 98-100
-
-
Schipani, E.1
Kruse, K.2
Juppner, H.3
-
21
-
-
0032128253
-
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia
-
Jobert A.S., Zhang P., Couvineau A., Bonaventure J., Roume J., Le Merrer M., Silve C. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J. Clin. Invest. 102:1998;34-40
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 34-40
-
-
Jobert, A.S.1
Zhang, P.2
Couvineau, A.3
Bonaventure, J.4
Roume, J.5
Le Merrer, M.6
Silve, C.7
-
22
-
-
9344241375
-
PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth
-
Lanske B., Karaplis A.C., Lee K., Luz A., Vortkamp A., Pirro A., Karperien M., Defize L.H., Ho C., Mulligan R.C., Abou-Samra A.B., Juppner H., Segre G.V., Kronenberg H.M. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science. 273:1996;663-666
-
(1996)
Science
, vol.273
, pp. 663-666
-
-
Lanske, B.1
Karaplis, A.C.2
Lee, K.3
Luz, A.4
Vortkamp, A.5
Pirro, A.6
Karperien, M.7
Defize, L.H.8
Ho, C.9
Mulligan, R.C.10
Abou-Samra, A.B.11
Juppner, H.12
Segre, G.V.13
Kronenberg, H.M.14
-
23
-
-
0031442990
-
Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide
-
Schipani E., Lanske B., Hunzelman J., Luz A., Kovacs C.S., Lee K., Pirro A., Kronenberg H.M., Juppner H. Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide. Proc. Natl. Acad. Sci. USA. 94:1997;13689-13694
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 13689-13694
-
-
Schipani, E.1
Lanske, B.2
Hunzelman, J.3
Luz, A.4
Kovacs, C.S.5
Lee, K.6
Pirro, A.7
Kronenberg, H.M.8
Juppner, H.9
-
24
-
-
0035164933
-
The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein
-
Blanco G., Coulton G.R., Biggin A., Grainge C., Moss J., Barrett M., Berquin A., Marechal G., Skynner M., van Mier P., Nikitopoulou A., Kraus M., Ponting C.P., Mason R.M., Brown S.D. The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. Hum. Mol. Genet. 10:2001;9-16
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 9-16
-
-
Blanco, G.1
Coulton, G.R.2
Biggin, A.3
Grainge, C.4
Moss, J.5
Barrett, M.6
Berquin, A.7
Marechal, G.8
Skynner, M.9
Van Mier, P.10
Nikitopoulou, A.11
Kraus, M.12
Ponting, C.P.13
Mason, R.M.14
Brown, S.D.15
-
25
-
-
0035882271
-
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells
-
Barclay J., Balaguero N., Mione M., Ackerman S.L., Letts V.A., Brodbeck J., Canti C., Meir A., Page K.M., Kusumi K., Perez-Reyes E., Lander E.S., Frankel W.N., Gardiner R.M., Dolphin A.C., Rees M. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J. Neurosci. 21:2001;6095-6104
-
(2001)
J. Neurosci.
, vol.21
, pp. 6095-6104
-
-
Barclay, J.1
Balaguero, N.2
Mione, M.3
Ackerman, S.L.4
Letts, V.A.5
Brodbeck, J.6
Canti, C.7
Meir, A.8
Page, K.M.9
Kusumi, K.10
Perez-Reyes, E.11
Lander, E.S.12
Frankel, W.N.13
Gardiner, R.M.14
Dolphin, A.C.15
Rees, M.16
-
27
-
-
0028865040
-
Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus
-
Vujic M., Hallstensson K., Wahlstrom J., Lundberg A., Langmaack C., Martinson T. Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. Am. J. Hum. Genet. 57:1995;1104-1113
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1104-1113
-
-
Vujic, M.1
Hallstensson, K.2
Wahlstrom, J.3
Lundberg, A.4
Langmaack, C.5
Martinson, T.6
-
28
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
29
-
-
0037250405
-
MGD: The Mouse Genome Database
-
Blake J.A., Richardson J.E., Bult C.J., Kadin J.A., Eppig J.T. MGD: the Mouse Genome Database. Nucleic Acids Res. 31:2003;193-195
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 193-195
-
-
Blake, J.A.1
Richardson, J.E.2
Bult, C.J.3
Kadin, J.A.4
Eppig, J.T.5
-
30
-
-
0026645062
-
The genetic map of the mouse suitable for typing intraspecific crosses
-
Dietrich W., Katz H., Lincoln S.E., Shin H.S., Friedman J., Dracopoli N.C., Lander E.S. The genetic map of the mouse suitable for typing intraspecific crosses. Genetics. 131:1992;423-447
-
(1992)
Genetics
, vol.131
, pp. 423-447
-
-
Dietrich, W.1
Katz, H.2
Lincoln, S.E.3
Shin, H.S.4
Friedman, J.5
Dracopoli, N.C.6
Lander, E.S.7
-
31
-
-
0025941823
-
Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid
-
Kessel M., Gruss P. Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid. Cell. 67:1991;89-104
-
(1991)
Cell
, vol.67
, pp. 89-104
-
-
Kessel, M.1
Gruss, P.2
-
32
-
-
0025287963
-
Symplastic spermatids (sys): A recessive insertional mutation in mice causing a defect in spermatogenesis
-
MacGregor G.R., Russell L.D., Van Beek M.E., Hanten G.R., Kovac M.J., Kozak C.A., Meistrich M.L., Overbeek P.A. Symplastic spermatids (sys): a recessive insertional mutation in mice causing a defect in spermatogenesis. Proc. Natl. Acad. Sci. USA. 87:1990;5016-5020
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 5016-5020
-
-
MacGregor, G.R.1
Russell, L.D.2
Van Beek, M.E.3
Hanten, G.R.4
Kovac, M.J.5
Kozak, C.A.6
Meistrich, M.L.7
Overbeek, P.A.8
-
33
-
-
0030882233
-
Germ cell nuclear antigen (GCNA1) expression does not require a gonadal environment or steroidogenic factor 1: Examination of GCNA1 in ectopic germ cells and in Ftz-F1 null mice
-
Wang D., Ikeda Y., Parker K.L., Enders G.C. Germ cell nuclear antigen (GCNA1) expression does not require a gonadal environment or steroidogenic factor 1: examination of GCNA1 in ectopic germ cells and in Ftz-F1 null mice. Mol. Reprod. Dev. 48:1997;154-158
-
(1997)
Mol. Reprod. Dev.
, vol.48
, pp. 154-158
-
-
Wang, D.1
Ikeda, Y.2
Parker, K.L.3
Enders, G.C.4
-
34
-
-
0033636642
-
Hair cells in the inner ear of the pirouette and shaker 2 mutant mice
-
Beyer L.A., Odeh H., Probst F.J., Lambert E.H., Dolan D.F., Camper S.A., Kohrman D.C., Raphael Y. Hair cells in the inner ear of the pirouette and shaker 2 mutant mice. J. Neurocytol. 29:2000;227-239
-
(2000)
J. Neurocytol.
, vol.29
, pp. 227-239
-
-
Beyer, L.A.1
Odeh, H.2
Probst, F.J.3
Lambert, E.H.4
Dolan, D.F.5
Camper, S.A.6
Kohrman, D.C.7
Raphael, Y.8
-
35
-
-
0029149173
-
Targeted disruption of the pituitary glycoprotein hormone alpha-subunit produces hypogonadal and hypothyroid mice
-
Kendall S.K., Samuelson L.C., Saunders T.L., Wood R.I., Camper S.A. Targeted disruption of the pituitary glycoprotein hormone alpha-subunit produces hypogonadal and hypothyroid mice. Genes Dev. 9:1995;2007-2019
-
(1995)
Genes Dev.
, vol.9
, pp. 2007-2019
-
-
Kendall, S.K.1
Samuelson, L.C.2
Saunders, T.L.3
Wood, R.I.4
Camper, S.A.5
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