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Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy.
- Published in:
- 2009
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- Publication type:
- journal article
Carrier screening and genetic counselling in beta-thalassemia.
- Published in:
- 2002
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- Publication type:
- journal article
The role of the -50 region of the human ?-globin gene in switching.
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- EMBO Journal, 2001, v. 20, n. 18, p. 5242, doi. 10.1093/emboj/20.18.5242
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- Article
Early antenatal sonographic diagnosis of conjoined syncephaluscraniothoraco- omphalopagus twins. Case report.
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- Journal of Perinatal Medicine, 1991, v. 19, n. 6, p. 489
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- Article
Antenatal Diagnosis of β-Thalassemia in Sardinia<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 215, doi. 10.1111/j.1749-6632.1990.tb24309.x
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- Publication type:
- Article
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
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- Journal of Human Genetics, 2006, v. 51, n. 11, p. 1030, doi. 10.1007/s10038-006-0049-6
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- Publication type:
- Article
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
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- Clinical Chemistry & Laboratory Medicine, 2004, v. 42, n. 8, p. 915, doi. 10.1515/CCLM.2004.148
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- Article
Genetic Modifying Factors in β-Thalassemia.
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- Clinical Chemistry & Laboratory Medicine, 2000, v. 38, n. 2, p. 123
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- Publication type:
- Article
Different switching patterns of β-thalassaemic mutations at the proximal and distal CACCC box of the human HBB (β-globin) gene.
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- British Journal of Haematology, 2016, v. 173, n. 5, p. 794, doi. 10.1111/bjh.13636
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- Publication type:
- Article
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28.
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- Nature Genetics, 2000, v. 25, n. 3, p. 324, doi. 10.1038/77100
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- Publication type:
- Article
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome.
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- Developmental Dynamics, 1998, v. 213, n. 4, p. 431, doi. 10.1002/(SICI)1097-0177(199812)213:4<431::AID-AJA8>3.0.CO;2-7
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- Publication type:
- Article
Fetal nuchal translucency and prenatal diagnosis of β -thalassaemia.
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- Prenatal Diagnosis, 1999, v. 19, n. 8, p. 758, doi. 10.1002/(SICI)1097-0223(199908)19:8<758::AID-PD622>3.0.CO;2-H
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- Publication type:
- Article
Umbilical artery velocity waveforms before and after chorionic villus sampling.
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- 1994
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- Publication type:
- journal article
Transabdominal chorionic villus sampling: Fetal loss rate in relation to maternal and gestational age.
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- Prenatal Diagnosis, 1992, v. 12, n. 10, p. 815, doi. 10.1002/pd.1970121007
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- Publication type:
- Article
Prenatal diagnosis of β-thalassaemia by second-trimester chorionic villus sampling.
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- Prenatal Diagnosis, 1988, v. 8, n. 6, p. 447, doi. 10.1002/pd.1970080609
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- Publication type:
- Article
Prenatal diagnosis of thalassemia major by fetal blood analysis: experience with 1000 cases.
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- 1986
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- Publication type:
- journal article
First trimester diagnosis of β-thalassaemia in a twin pregnancy.
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- Prenatal Diagnosis, 1986, v. 6, n. 1, p. 63, doi. 10.1002/pd.1970060109
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- Publication type:
- Article
The Forkhead Transcription Factor Foxl2 Is Sumoylated in Both Human and Mouse: Sumoylation Affects Its Stability, Localization, and Activity.
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- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009477
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- Publication type:
- Article
Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 2, p. 841, doi. 10.1210/jcem.87.2.8209
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- Publication type:
- Article
Relationship between Genotype and Phenotype: Thalassemia Intermedia<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1998, v. 850, n. 1, p. 325, doi. 10.1111/j.1749-6632.1998.tb10489.x
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- Publication type:
- Article
Evaluation of antibodies to hepatitis C virus in a long-term prospective study of posttransfusion hepatitis among thalassemic children: comparison between first- and second-generation assay.
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- 1993
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- Publication type:
- journal article
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.
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- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 696, doi. 10.1038/ejhg.2008.7
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- Publication type:
- Article
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region.
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- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 613, doi. 10.1038/sj.ejhg.5201205
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- Article
Haplotype and mutation analysis in Greek patients with Wilson disease.
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- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 487, doi. 10.1038/sj.ejhg.5200219
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- Publication type:
- Article
Color Doppler ultrasound and prenatal diagnosis of cleft palate.
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- 1995
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- Publication type:
- journal article
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study.
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- European Heart Journal, 2010, v. 31, n. 5, p. 602, doi. 10.1093/eurheartj/ehp491
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- Article
Determination and stability of sex.
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- BioEssays, 2007, v. 29, n. 1, p. 15, doi. 10.1002/bies.20515
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- Publication type:
- Article
Recent advances in β-thalassemias.
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- Pediatric Reports, 2011, v. 3, n. 2, p. 65, doi. 10.4081/pr.2011.e17
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- Publication type:
- Article
A novel mediterranean 'δβ-thalassemia' determinant containing the δ<sup>+</sup>27 and β°39 point mutations in cis.
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- American Journal of Hematology, 1994, v. 45, n. 1, p. 81, doi. 10.1002/ajh.2830450113
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- Publication type:
- Article
Interaction of heterozygous β<sup>o</sup>-thalassemia with single functional α-globin gene.
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- American Journal of Hematology, 1988, v. 29, n. 2, p. 63, doi. 10.1002/ajh.2830290202
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- Article
Molecular diagnosis and carrier screening for beta Thalassemia.
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- JAMA: Journal of the American Medical Association, 1997, v. 278, n. 15, p. 1273, doi. 10.1001/jama.1997.03550150077039
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- Article
Psychological implications and acceptability of preimplantation diagnosis.
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- 1994
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- Publication type:
- journal article
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
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- 2008
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- Publication type:
- Report
Hemoglobin Inclusions in Heterozygous Alpha-Thalassemia According to Their Alpha-Globin Genotype.
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- Acta Haematologica, 1984, v. 72, n. 1, p. 34, doi. 10.1159/000206353
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- Publication type:
- Article
Normal δ globin gene sequence in carrier of the silent −101 (C-T) β-thalassemia mutation with normal HbA2 level.
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- American Journal of Hematology, 2001, v. 67, n. 1, p. 58, doi. 10.1002/ajh.1079
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- Article
α-thalassemia carrier identification by DNA analysis in the screening for thalassemia.
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- American Journal of Hematology, 1998, v. 59, n. 4, p. 273, doi. 10.1002/(SICI)1096-8652(199812)59:4<273::AID-AJH2>3.0.CO;2-3
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- Article
Regulation of the human HBA genes by KLF4 in erythroid cell lines.
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- British Journal of Haematology, 2010, v. 149, n. 5, p. 748, doi. 10.1111/j.1365-2141.2010.08130.x
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- Publication type:
- Article
Thalassaemia-like carriers not linked to the β-globin gene cluster.
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- British Journal of Haematology, 2006, v. 132, n. 5, p. 640, doi. 10.1111/j.1365-2141.2005.05915.x
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- Publication type:
- Article
Somatic deletion of the normalβ-globin gene leading to thalassaemia intermedia in heterozygousβ-thalassaemic patients.
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- British Journal of Haematology, 2004, v. 127, n. 5, p. 604, doi. 10.1111/j.1365-2141.2004.05237.x
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- Publication type:
- Article
The distalβ-globin CACCC box is required for maximal stimulation of theβ-globin gene by EKLF.
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- British Journal of Haematology, 2004, v. 127, n. 1, p. 114, doi. 10.1111/j.1365-2141.2004.05153.x
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- Publication type:
- Article
A novel silentβ-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF.
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- British Journal of Haematology, 2004, v. 126, n. 6, p. 881, doi. 10.1111/j.1365-2141.2004.05146.x
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- Article
A novel DKC1 mutation, severe combined immunodeficiency (T<sup>+</sup> B<sup>–</sup> NK<sup>–</sup> SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome.
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- British Journal of Haematology, 2002, v. 119, n. 3, p. 765, doi. 10.1046/j.1365-2141.2002.03822.x
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- Publication type:
- Article
The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts.
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- PLoS Genetics, 2007, v. 3, n. 11, p. e194, doi. 10.1371/journal.pgen.0030194
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- Publication type:
- Article
Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians.
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- PLoS Genetics, 2006, v. 3, n. 2, p. e132, doi. 10.1371/journal.pgen.0020132
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- Article
Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.
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- Prenatal Diagnosis, 2006, v. 26, n. 5, p. 418, doi. 10.1002/pd.1427
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- Publication type:
- Article
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
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- Human Molecular Genetics, 2009, v. 18, n. 14, p. 2711, doi. 10.1093/hmg/ddp203
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- Publication type:
- Article
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2795, doi. 10.1093/hmg/ddm235
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- Article
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
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- Human Molecular Genetics, 2004, v. 13, n. 11, p. 1171, doi. 10.1093/hmg/ddh124
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- Article
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
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- Human Mutation, 1999, v. 14, n. 5, p. 394, doi. 10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1
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- Publication type:
- Article
Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect.
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- Human Mutation, 1999, v. 14, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9
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- Publication type:
- Article