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Specific temperament in patients with nevoid basal cell carcinoma syndrome.
- Published in:
- Pediatrics International, 2021, v. 63, n. 2, p. 177, doi. 10.1111/ped.14419
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- Publication type:
- Article
Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review.
- Published in:
- Pediatrics International, 2014, v. 56, n. 5, p. 667, doi. 10.1111/ped.12461
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- Publication type:
- Article
Carrier Detection in Agammaglobulinemia by X Chromosome Inactivation Analysis.
- Published in:
- Pediatrics International, 1992, v. 34, n. 3, p. 267, doi. 10.1111/j.1442-200X.1992.tb00957.x
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- Publication type:
- Article
Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome.
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- Journal of Human Genetics, 2012, v. 57, n. 7, p. 422, doi. 10.1038/jhg.2012.45
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- Publication type:
- Article
Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 398, doi. 10.1038/jhg.2009.51
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- Publication type:
- Article
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 891, doi. 10.1007/s10038-007-0192-8
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- Publication type:
- Article
Frequent occurrence of protein isoforms with or without a single amino acid residue by subtle alternative splicing: the case of Gln in DRPLA affects subcellular localization of the products.
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- Journal of Human Genetics, 2005, v. 50, n. 8, p. 382, doi. 10.1007/s10038-005-0261-9
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- Publication type:
- Article
Identification of a novel polymorphism involving a CGG repeat in the PTCH gene and a genome-wide screening of CGG-containing genes.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 2, p. 97, doi. 10.1007/s10038-003-0117-0
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- Publication type:
- Article
Genomic structure and alternative splicing of the insulin receptor tyrosine kinase substrate of 53-kDa protein.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 8, p. 410, doi. 10.1007/s10038-003-0047-x
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- Publication type:
- Article
Brain morphology in children with nevoid basal cell carcinoma syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 946, doi. 10.1002/ajmg.a.38115
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- Publication type:
- Article
Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1029, doi. 10.1002/ajmg.a.37517
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- Publication type:
- Article
Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1724, doi. 10.1002/ajmg.a.35412
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- Publication type:
- Article
Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 351, doi. 10.1002/ajmg.a.34421
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- Publication type:
- Article
Mirror syndrome associated with fetal transient abnormal myelopoiesis in Down syndrome.
- Published in:
- Pathology International, 2015, v. 65, n. 8, p. 443, doi. 10.1111/pin.12291
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- Publication type:
- Article
RCAN1 Is an Important Mediator of Glucocorticoid-Induced Apoptosis in Human Leukemic Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049926
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- Publication type:
- Article
BCL-2 family proteins: Regulators of cell death involved in the pathogenesis of cancer and resistance to therapy.
- Published in:
- Journal of Cellular Biochemistry, 1996, v. 60, n. 1, p. 23, doi. 10.1002/(SICI)1097-4644(19960101)60:1<23::AID-JCB5>3.0.CO;2-5
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- Publication type:
- Article
High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 459, doi. 10.1007/s00439-007-0419-y
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- Publication type:
- Article
Molecular studies of chronic myelogenous leukemia using the polymerase chain reaction.
- Published in:
- 1991
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- Publication type:
- journal article
Human homologue of S. pombe Rad9 interacts with BCL-2/BCL-x<sub>L</sub> and promotes apoptosis.
- Published in:
- Nature Cell Biology, 2000, v. 2, n. 1, p. 1, doi. 10.1038/71316
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- Publication type:
- Article
Splicing Aberration in Naevoid Basal Cell Carcinoma Syndrome.
- Published in:
- 2012
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- Publication type:
- Case Study
The serine 106 residue within the N-terminal transactivation domain is crucial for Oct4 function in mice.
- Published in:
- Zygote, 2017, v. 25, n. 2, p. 197, doi. 10.1017/S0967199417000053
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- Publication type:
- Article
Dexamethasone-resistant Human Pre-B Leukemia 697 Cell Line Evolving Elevation of Intracellular Glutathione Level: An Additional Resistance Mechanism.
- Published in:
- Cancer Science, 2002, v. 93, n. 5, p. 582, doi. 10.1111/j.1349-7006.2002.tb01294.x
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- Publication type:
- Article
γ-Irradiation Deregulates Cell Cycle Control and Apoptosis in Nevoid Basal Cell Carcinoma Syndrome-derived Cells.
- Published in:
- Cancer Science, 1999, v. 90, n. 12, p. 1351, doi. 10.1111/j.1349-7006.1999.tb00719.x
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- Publication type:
- Article
Malignant Cell Detection in Burkitt's Lymphoma Using Third-complementarity-determining Region (CDRIII), Clone-specific Probe Developed by Sequencing DNA from Stored Slides.
- Published in:
- Cancer Science, 1991, v. 82, n. 7, p. 848, doi. 10.1111/j.1349-7006.1991.tb02712.x
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- Publication type:
- Article
A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0047-9
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- Publication type:
- Article
Investigation of glucocorticoid-induced apoptotic pathway: Processing of Caspase-6 but not Caspase-3.
- Published in:
- Cell Death & Differentiation, 1998, v. 5, n. 12, p. 1034, doi. 10.1038/sj.cdd.4400442
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- Publication type:
- Article
Evolutionary Conservation of Function Among Mammalian, Avian, and Viral Homologs of the Bcl-2 Oncoprotein.
- Published in:
- DNA & Cell Biology, 1994, v. 13, n. 7, p. 679, doi. 10.1089/dna.1994.13.679
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- Publication type:
- Article
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.
- Published in:
- Familial Cancer, 2017, v. 16, n. 1, p. 131, doi. 10.1007/s10689-016-9924-2
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- Publication type:
- Article
Frameshift mutation in the <i>PTCH2</i> gene can cause nevoid basal cell carcinoma syndrome.
- Published in:
- Familial Cancer, 2013, v. 12, n. 4, p. 611, doi. 10.1007/s10689-013-9623-1
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- Publication type:
- Article
Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.
- Published in:
- Familial Cancer, 2012, v. 11, n. 4, p. 565, doi. 10.1007/s10689-012-9548-0
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- Publication type:
- Article
Blasts in transient leukaemia in neonates with Down syndrome differentiate into basophil/mast-cell and megakaryocyte lineages in vitro in association with down-regulation of truncated form of GATA1.
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- British Journal of Haematology, 2010, v. 148, n. 6, p. 898, doi. 10.1111/j.1365-2141.2009.08038.x
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- Publication type:
- Article
EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. E946, doi. 10.1002/humu.21094
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- Publication type:
- Article
Role of FK506 binding protein 5 (FKBP5) in osteoclast differentiation.
- Published in:
- Modern Rheumatology, 2013, v. 23, n. 6, p. 1133, doi. 10.3109/s10165-012-0809-4
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- Publication type:
- Article
Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3379, doi. 10.1093/hmg/ddi369
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- Publication type:
- Article
Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 13, p. 1535, doi. 10.1093/hmg/ddg168
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- Publication type:
- Article
Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1433
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- Publication type:
- Article
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #603 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/603.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9132
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- Publication type:
- Article
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #603 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/603.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9132
- By:
- Publication type:
- Article
Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 6, p. 947, doi. 10.1093/hmg/8.6.947
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- Publication type:
- Article
A Unique Origin and Multistep Process for the Generation of Expanded DRPLA Triplet Repeats.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 3, p. 373, doi. 10.1093/hmg/5.3.373
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- Publication type:
- Article
Caspase-8 and caspase-10 activate NF-κB through RIP, NIK and IKKα kinases.
- Published in:
- European Journal of Immunology, 2003, v. 33, n. 7, p. 1998, doi. 10.1002/eji.200324013
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- Publication type:
- Article
MOLECULAR ANALYSIS OF BCR/ABL PRODUCTS IN A CASE OF MYELODYSPLASTIC SYNDROME WITH LATE APPEARING PHILADELPHIA CHROMOSOME.
- Published in:
- British Journal of Haematology, 1991, v. 78, n. 1, p. 130, doi. 10.1111/j.1365-2141.1991.tb04399.x
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- Publication type:
- Article
Maintenance of Xist Imprinting Depends on Chromatin Condensation State and Rnf12 Dosage in Mice.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 10, p. 1, doi. 10.1371/journal.pgen.1006375
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- Publication type:
- Article