[ Pobierz całość w formacie PDF ]
.Ann.Genet.31: 27-31, 1988.PubMed ID : 328156745.Parrish, J.E.; Scheuerle, A.E.; Lewis, R.A.; Levy, M.L.; Nelson, D.L.:Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2.Hum.Molec.Genet.5: 1777-1783, 1996.PubMed ID : 892300646.Pettenati, M.J.; Teot, L.A.; Smith, C.; Hayworth, R.; Thomas, I.T.; Veille, J.C.; Rao, P.N.:Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.Am.J.Med.Genet.45: 365-369, 1993.PubMed ID : 843462547.Pfau, A.; Landthaler, M.:Recurrent inflammation in incontinentia pigmenti of a seven-year-old child.Dermatology 191: 161-163, 1995.PubMed ID : 852006748.Pfeiffer, R.A.:Zur Frage der Vererbung der Incontinentia pigmenti Bloch-Siemens.Z.Menschl.Vererb.Konstitutionsl.35: 469-493, 1960.PubMed ID : 1373518149.Phillips, R.J.S.:Striated, a new sex-linked gene in the house mouse.Genet.Res.4: 151-153, 1963.50.Reed, W.B.; Carter, C.; Cohen, T.M.:Incontinentia pigmenti.Dermatologica 134: 243-250, 1967.PubMed ID : 605167251.Roberts, J.L.; Morrow, B.; Vega-Rich, C.; Salafia, C.M.; Nitowsky, H.M.:Incontinentia pigmenti in a newborn male infant with DNA confirmation.Am.J.Med.Genet.75: 159-163, 1998.PubMed ID : 945087752.Rudolph, D.; Yeh, W.-C.; Wakeham, A.; Rudolph, B.; Nallainathan, D.; Potter, J.; Elia, A.J.; Mak, T.W.:Severe liver degeneration and lack of NF-kappa-B activation in NEMO/IKK-gamma-deficient mice.Genes Dev.14: 854-862, 2000.PubMed ID : 1076674153.Sefiani, A.; Abel, L.; Heuertz, S.; Sinnett, D.; Lavergne, L.; Labuda, D.; Hors-Cayla, M.C.:The gene for incontinentia pigmenti is assigned to Xq28.Genomics 4: 427-429, 1989.PubMed ID : 271479854.Sefiani, A.; M'rad, R.; Simard, L.; Vincent, A.; Julier, C.; Holvoet-Vermaut , L.; Heuertz, S.; Dahl, N.; Stalder, J.F.; Peter, M.O.; Moraine, C.; Maleville, J.; Boyer, J.; Oberle, I.; Labuda, D.; Hors-Cayla, M.C.:Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.Hum.Genet.86: 297-299, 1991.PubMed ID : 184769055.Sefiani, A.; Sinnett, D.; Abel, L.; Szpiro-Tapia, S.; Heuertz, S.; Craig, I.; Fraser, N.; Kruse, T.A.; Frydman, M.; Peter, M.O.; Schmutz, J.L.; Gilgenkrantz, S.; Mitchell, G.; Frezal, J.; Melancon, S.; Lavergne, L.; Labuda, D.; Hors-Cayla, M.C.:Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.Hum.Genet.80: 282-286, 1988.PubMed ID : 319221556.Smahi, A.; Hyden-Granskog, C.; Peterlin, B.; Vabres, P.; Heuertz, S.; Fulchignoni-Lataud, M.C.; Dahl, N.; Labrune, P.; Le Marec, B.; Piussan, C.; Taieb, A.; von Koskull, H.; Hors-Cayla, M.C.:The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.Hum.Molec.Genet.3: 273-278, 1994.PubMed ID : 800409457.Sommer, A.; Liu, P.H.:Incontinentia pigmenti in a father and his daughter.Am.J.Med.Genet.17: 655-659, 1984.PubMed ID : 671161758.Spallone, A.:Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.Brit.J.Ophthal.71: 629-634, 1987.PubMed ID : 311528859.Sulzberger, M.B.:Ueber eine bisher nicht beschriebene congenitale Pigmentanomalie (Incontinentia pigmenti).Arch.Derm.Syph.154: 19-32, 1927.60.Sybert, V.P.:Incontinentia pigmenti nomenclature.(Letter) Am.J.Hum.Genet.55: 209-211, 1994.PubMed ID : 802384961.The International Incontinentia Pigmenti Consortium :Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti.Nature 405: 466-472, 2000.PubMed ID : 1083954362.Traupe, H.; Vehring, K.-H.:Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males.Am.J.Med.Genet.49: 397-398, 1994.PubMed ID : 816073263.Wettke-Schafer, R.; Kantner, G.:X-linked dominant inherited diseases with lethality in hemizygous males.Hum.Genet.64: 1-23, 1983.PubMed ID : 687394164.Wieacker, P.; Zimmer, J.; Ropers, H.-H.:X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance.Clin.Genet.28: 238-242, 1985.PubMed ID : 406436065.Wiklund, D.A.; Weston, W.L.:Incontinentia pigmenti: a four-generation study.Arch.Derm.116: 701-703, 1980.PubMed ID : 7377807INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE; BLOCH-SULZBERGER SYNDROMEINCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLYCopyright © 1966-2005 Johns Hopkins University - 1 - [ Pobierz całość w formacie PDF ]
zanotowane.pl doc.pisz.pl pdf.pisz.pl przylepto3.keep.pl
.Ann.Genet.31: 27-31, 1988.PubMed ID : 328156745.Parrish, J.E.; Scheuerle, A.E.; Lewis, R.A.; Levy, M.L.; Nelson, D.L.:Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2.Hum.Molec.Genet.5: 1777-1783, 1996.PubMed ID : 892300646.Pettenati, M.J.; Teot, L.A.; Smith, C.; Hayworth, R.; Thomas, I.T.; Veille, J.C.; Rao, P.N.:Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.Am.J.Med.Genet.45: 365-369, 1993.PubMed ID : 843462547.Pfau, A.; Landthaler, M.:Recurrent inflammation in incontinentia pigmenti of a seven-year-old child.Dermatology 191: 161-163, 1995.PubMed ID : 852006748.Pfeiffer, R.A.:Zur Frage der Vererbung der Incontinentia pigmenti Bloch-Siemens.Z.Menschl.Vererb.Konstitutionsl.35: 469-493, 1960.PubMed ID : 1373518149.Phillips, R.J.S.:Striated, a new sex-linked gene in the house mouse.Genet.Res.4: 151-153, 1963.50.Reed, W.B.; Carter, C.; Cohen, T.M.:Incontinentia pigmenti.Dermatologica 134: 243-250, 1967.PubMed ID : 605167251.Roberts, J.L.; Morrow, B.; Vega-Rich, C.; Salafia, C.M.; Nitowsky, H.M.:Incontinentia pigmenti in a newborn male infant with DNA confirmation.Am.J.Med.Genet.75: 159-163, 1998.PubMed ID : 945087752.Rudolph, D.; Yeh, W.-C.; Wakeham, A.; Rudolph, B.; Nallainathan, D.; Potter, J.; Elia, A.J.; Mak, T.W.:Severe liver degeneration and lack of NF-kappa-B activation in NEMO/IKK-gamma-deficient mice.Genes Dev.14: 854-862, 2000.PubMed ID : 1076674153.Sefiani, A.; Abel, L.; Heuertz, S.; Sinnett, D.; Lavergne, L.; Labuda, D.; Hors-Cayla, M.C.:The gene for incontinentia pigmenti is assigned to Xq28.Genomics 4: 427-429, 1989.PubMed ID : 271479854.Sefiani, A.; M'rad, R.; Simard, L.; Vincent, A.; Julier, C.; Holvoet-Vermaut , L.; Heuertz, S.; Dahl, N.; Stalder, J.F.; Peter, M.O.; Moraine, C.; Maleville, J.; Boyer, J.; Oberle, I.; Labuda, D.; Hors-Cayla, M.C.:Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.Hum.Genet.86: 297-299, 1991.PubMed ID : 184769055.Sefiani, A.; Sinnett, D.; Abel, L.; Szpiro-Tapia, S.; Heuertz, S.; Craig, I.; Fraser, N.; Kruse, T.A.; Frydman, M.; Peter, M.O.; Schmutz, J.L.; Gilgenkrantz, S.; Mitchell, G.; Frezal, J.; Melancon, S.; Lavergne, L.; Labuda, D.; Hors-Cayla, M.C.:Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.Hum.Genet.80: 282-286, 1988.PubMed ID : 319221556.Smahi, A.; Hyden-Granskog, C.; Peterlin, B.; Vabres, P.; Heuertz, S.; Fulchignoni-Lataud, M.C.; Dahl, N.; Labrune, P.; Le Marec, B.; Piussan, C.; Taieb, A.; von Koskull, H.; Hors-Cayla, M.C.:The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.Hum.Molec.Genet.3: 273-278, 1994.PubMed ID : 800409457.Sommer, A.; Liu, P.H.:Incontinentia pigmenti in a father and his daughter.Am.J.Med.Genet.17: 655-659, 1984.PubMed ID : 671161758.Spallone, A.:Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.Brit.J.Ophthal.71: 629-634, 1987.PubMed ID : 311528859.Sulzberger, M.B.:Ueber eine bisher nicht beschriebene congenitale Pigmentanomalie (Incontinentia pigmenti).Arch.Derm.Syph.154: 19-32, 1927.60.Sybert, V.P.:Incontinentia pigmenti nomenclature.(Letter) Am.J.Hum.Genet.55: 209-211, 1994.PubMed ID : 802384961.The International Incontinentia Pigmenti Consortium :Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti.Nature 405: 466-472, 2000.PubMed ID : 1083954362.Traupe, H.; Vehring, K.-H.:Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males.Am.J.Med.Genet.49: 397-398, 1994.PubMed ID : 816073263.Wettke-Schafer, R.; Kantner, G.:X-linked dominant inherited diseases with lethality in hemizygous males.Hum.Genet.64: 1-23, 1983.PubMed ID : 687394164.Wieacker, P.; Zimmer, J.; Ropers, H.-H.:X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance.Clin.Genet.28: 238-242, 1985.PubMed ID : 406436065.Wiklund, D.A.; Weston, W.L.:Incontinentia pigmenti: a four-generation study.Arch.Derm.116: 701-703, 1980.PubMed ID : 7377807INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE; BLOCH-SULZBERGER SYNDROMEINCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLYCopyright © 1966-2005 Johns Hopkins University - 1 - [ Pobierz całość w formacie PDF ]