Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations (Englisch)
Nationallizenz
- Neue Suche nach: Hong, Susan E.
- Neue Suche nach: Shugart, Yin Yao
- Neue Suche nach: Huang, David T.
- Neue Suche nach: Shahwan, Saad Al
- Neue Suche nach: Grant, P. Ellen
- Neue Suche nach: Hourihane, Jonathan O'B.
- Neue Suche nach: Martin, Neil D.T.
- Neue Suche nach: Walsh, Christopher A.
- Neue Suche nach: Hong, Susan E.
- Neue Suche nach: Shugart, Yin Yao
- Neue Suche nach: Huang, David T.
- Neue Suche nach: Shahwan, Saad Al
- Neue Suche nach: Grant, P. Ellen
- Neue Suche nach: Hourihane, Jonathan O'B.
- Neue Suche nach: Martin, Neil D.T.
- Neue Suche nach: Walsh, Christopher A.
In:
Nature Genetics
;
26
, 1
;
93-96
;
2000
-
ISSN:
- Aufsatz (Zeitschrift) / Elektronische Ressource
-
Titel:Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
-
Beteiligte:Hong, Susan E. ( Autor:in ) / Shugart, Yin Yao ( Autor:in ) / Huang, David T. ( Autor:in ) / Shahwan, Saad Al ( Autor:in ) / Grant, P. Ellen ( Autor:in ) / Hourihane, Jonathan O'B. ( Autor:in ) / Martin, Neil D.T. ( Autor:in ) / Walsh, Christopher A. ( Autor:in )
-
Erschienen in:Nature Genetics ; 26, 1 ; 93-96
-
Verlag:
- Neue Suche nach: Nature America Inc.
-
Erscheinungsdatum:01.09.2000
-
Format / Umfang:4 pages
-
ISSN:
-
DOI:
-
Medientyp:Aufsatz (Zeitschrift)
-
Format:Elektronische Ressource
-
Sprache:Englisch
-
Datenquelle:
Inhaltsverzeichnis – Band 26, Ausgabe 1
Zeige alle Jahrgänge und Ausgaben
Die Inhaltsverzeichnisse werden automatisch erzeugt und basieren auf den im Index des TIB-Portals verfügbaren Einzelnachweisen der enthaltenen Beiträge. Die Anzeige der Inhaltsverzeichnisse kann daher unvollständig oder lückenhaft sein.
- 1
-
Private matters, public affairs| 2000
- 3
-
Pulling apart pulmonary hypertensionScott, James et al. | 2000
- 4
-
Of microarrays and meandering data pointsGullans, Steven R et al. | 2000
- 6
-
A PDZ protein ushers in new linksMontell, Craig et al. | 2000
- 8
-
Melanocortins and body weight: a tale of two receptorsCummings, David E / Schwartz, Michael W. et al. | 2000
- 11
-
Touching base| 2000
- 13
-
Failure of adipocyte differentiation causes type II diabetes mellitus?Danforth, Elliot et al. | 2000
- 13
-
Sampling SNPsYang, Zhiyong / Ka-Shu Wong, Gane / Eberle, Michael A. / Kibukawa, Miho / Passey, Douglas A. / Hughes, William R. / Kruglyak, Leonid / Yu, Jun et al. | 2000
- 15
-
Mutations in MKKS cause Bardet-Biedl syndromeSlavotinek, Anne M. / Stone, Edwin M. / Mykytyn, Kirk / Heckenlively, John R. / Green, Jane S. / Heon, Elise / Musarella, Maria A. / Parfrey, Patrick S. / Sheffield, Val C. / Biesecker, Leslie G. et al. | 2000
- 16
-
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancerGrady, William M. / Willis, Joseph / Guilford, Parry J. / Dunbier, Anita K. / Toro, Tumi T. / Lynch, Henry / Wiesner, Georgia / Ferguson, Kelly / Eng, Charis / Park, Jae-Gahb et al. | 2000
- 18
-
A putative pheromone receptor gene expressed in human olfactory mucosaRodriguez, Ivan / Greer, Charles A. / Mok, Mai Y. / Mombaerts, Peter et al. | 2000
- 19
-
Domain-specific mutations in TGFB1 result in Camurati-Engelmann diseaseKinoshita, Akira / Saito, Takashi / Tomita, Hiro-aki / Makita, Yoshio / Yoshida, Kunihiro / Ghadami, Mohsen / Yamada, Koki / Kondo, Shinji / Ikegawa, Shiro / Nishimura, Gen et al. | 2000
- 21
-
The humane genome projectCarr, Geoffrey et al. | 2000
- 23
-
Circadian rhythm genetics: from flies to mice to humansWager-Smith, Karen / Kay, Steve A. et al. | 2000
- 29
-
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcriptionShimohata, Takayoshi / Nakajima, Toshihiro / Yamada, Mitsunori / Uchida, Chiharu / Onodera, Osamu / Naruse, Satoshi / Kimura, Tetsuya / Koide, Reiji / Nozaki, Kenkichi / Sano, Yasuteru et al. | 2000
- 37
-
A transactivation-deficient mouse model provides insights into Trp53 regulation and functionJimenez, Gretchen S. / Nister, Monica / Stommel, Jayne M. / Beeche, Michelle / Barcarse, Erin A. / Zhang, Xiao-Qun / O'Gorman, Stephen / Wahl, Geoffrey M. et al. | 2000
- 44
-
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or humanHuynh, Duong P. / Figueroa, Karla / Hoang, Nam / Pulst, Stefan-M. et al. | 2000
- 51
-
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1CVerpy, Elisabeth / Leibovici, Michel / Zwaenepoel, Ingrid / Liu, Xue-Zhong / Gal, Andreas / Salem, Nabiha / Mansour, Ahmad / Blanchard, Stéphane / Kobayashi, Ichiro / Keats, Bronya J.B. et al. | 2000
- 56
-
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C geneBitner-Glindzicz, Maria / Lindley, Keith J. / Rutland, Paul / Blaydon, Diana / Smith, Virpi V. / Milla, Peter J. / Hussain, Khalid / Furth-Lavi, Judith / Cosgrove, Karen E. / Shepherd, Ruth M. et al. | 2000
- 61
-
Large-scale human promoter mapping using CpG islandsIoshikhes, Ilya P. / Zhang, Michael Q. et al. | 2000
- 64
-
In vivo selection using a cell-growth switchJin, Liqing / Zeng, Hui / Chien, Sylvia / Otto, Kevin G. / Richard, Robert E. / Emery, David W. / Anthony Blau, C. et al. | 2000
- 67
-
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndromeKatsanis, Nicholas / Beales, Philip L. / Woods, Michael O. / Lewis, Richard A. / Green, Jane S. / Parfrey, Patrick S. / Ansley, Stephen J. / Davidson, William S. / Lupski, James R. et al. | 2000
- 71
-
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingSmith, Annabel N. / Skaug, Jennifer / Choate, Keith A. / Nayir, Ahmet / Bakkaloglu, Aysin / Ozen, Seza / Hulton, Sally A. / Sanjad, Sami A. / Al-Sabban, Essam A. / Lifton, Richard P. et al. | 2000
- 76
-
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetesAltshuler, David / Hirschhorn, Joel N. / Klannemark, Mia / Lindgren, Cecilia M. / Vohl, Marie-Claude / Nemesh, James / Lane, Charles R. / Schaffner, Stephen F. / Bolk, Stacey / Brewer, Carl et al. | 2000
- 81
-
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertensionLane, Kirk B. / Machado, Rajiv D. / Pauciulo, Michael W. / Thomson, Jennifer R. / Phillips, John A. / Loyd, James E. / Nichols, William C. / Trembath, Richard C. et al. | 2000
- 85
-
Telomere dysfunction impairs DNA repair and enhances sensitivity to ionizing radiationWong, Kwok-Kin / Chang, Sandy / Weiler, Sarah R. / Ganesan, Shridar / Chaudhuri, Jayanta / Zhu, Chengming / Artandi, Steven E. / Rudolph, Karl Lenhard / Gottlieb, Geoffrey J. / Chin, Lynda et al. | 2000
- 89
-
Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complexKirschner, Lawrence S. / Carney, J. Aidan / Pack, Svetlana D. / Taymans, Susan E. / Giatzakis, Christoforos / Cho, Yee Sook / Cho-Chung, Yoon S. / Stratakis, Constantine A. et al. | 2000
- 93
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutationsHong, Susan E. / Shugart, Yin Yao / Huang, David T. / Shahwan, Saad Al / Grant, P. Ellen / Hourihane, Jonathan O'B. / Martin, Neil D.T. / Walsh, Christopher A. et al. | 2000
- 97
-
Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body massChen, Airu S. / Marsh, Donald J. / Trumbauer, Myrna E. / Frazier, Easter G. / Guan, Xiao-Ming / Yu, Hong / Rosenblum, Charles I. / Vongs, Aurawan / Feng, Yue / Cao, Linhai et al. | 2000
- 103
-
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromesSyndrome Consortium, The May-Hegglin/Fechtner et al. | 2000
- 106
-
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomalyKelley, Michael J. / Jawien, William / Ortel, Thomas L. / Korczak, Jeannette F. et al. | 2000
- 109
-
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effectsReilly, Karlyne M. / Loisel, Dagan A. / Bronson, Roderick T. / McLaughlin, Margaret E. / Jacks, Tyler et al. | 2000
- 114
-
Telomerase-deficient mice with short telomeres are resistant to skin tumorigenesisGonzález-Suárez, Eva / Samper, Enrique / Flores, Juana M. / Blasco, María A. et al. | 2000
- 118
-
Identification of the gene causing mucolipidosis type IVBargal, Ruth / Avidan, Nili / Ben-Asher, Edna / Olender, Zvia / Zeigler, Marcia / Frumkin, Ayala / Raas-Rothschild, Annick / Glusman, Gustavo / Lancet, Doron / Bach, Gideon et al. | 2000
- 122
-
Pidd, a new death-domain–containing protein, is induced by p53 and promotes apoptosisLin, Yunping / Ma, Weili / Benchimol, Samuel et al. | 2000
- 127
-
Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein| 2000