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Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemia

BMC cancer, 2012-01, Vol.12 (1), p.9-9, Article 9

2012

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Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.145-152

2008

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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

BMC medical genetics, 2009-12, Vol.10 (1), p.136-136, Article 136

2009

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TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

Human mutation, 2005-05, Vol.25 (5), p.429-434

2005

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Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation

Journal of pediatric hematology/oncology, 2005-01, Vol.27 (1), p.50-52

2005

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An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Journal of medical genetics, 2007-02, Vol.44 (2), p.136-143

2007

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Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

EMBO molecular medicine, 2009-04, Vol.1 (1), p.50-65

2009

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Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

American journal of medical genetics. Part A, 2007-07, Vol.143A (13), p.1431-1441

2007

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T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements

Leukemia research, 2010-04, Vol.34 (4), p.483-486

2010

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Influência da metileno-tetrahidrofolato redutase na patogênese das leucemias agudas infantis

Revista Brasileira de Cancerologia, 2005-12, Vol.51 (4), p.289-295

2005

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High mutation detection rate inTCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Human mutation, 2000-10, Vol.16 (4), p.315-322

2000

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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Human mutation, 2000-10, Vol.16 (4), p.315-322

2000

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A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA–protein interaction

Gene, 2005-10, Vol.359, p.44-52

2005

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Parental origin of mutations in sporadic cases of Treacher Collins syndrome

European journal of human genetics : EJHG, 2003-09, Vol.11 (9), p.718-722

2003

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GATA1 Mutations in Clonal Disorders of Children with and without Down Syndrome

Blood, 2004-11, Vol.104 (11), p.4314-4314

2004

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GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature

Human mutation, 2005-10, Vol.26 (4), p.390-392

2005

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Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome

Leukemia & lymphoma, 2009-01, Vol.50 (5), p.834-840

2009

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Para que existem as regras de nomenclatura genética?

Revista brasileira de hematologia e hemoterapia, 2005-06, Vol.27 (2), p.148-152

Splendore, Alessandra

2005

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Para que existem as regras de nomenclatura genética?

Revista brasileira de hematologia e hemoterapia, 2005-06, Vol.27 (2)

Splendore, Alessandra

2005

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Para que existem as regras de nomenclatura genética? Why are there rules for genetic nomenclature?

Revista brasileira de hematologia e hemoterapia, 2005-06, Vol.27 (2), p.148-152

Alessandra Splendore

2005

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TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

American journal of medical genetics, 2002-08, Vol.111 (3), p.324-327

2002

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GATA1 mutations in acute leukemia in children with Down syndrome

Cancer genetics and cytogenetics, 2006-04, Vol.166 (2), p.112-116

2006

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An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Journal of medical genetics, 2007, Vol.44 (2), p.136-143

2007

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Italian midwives’ education needs analysis on essential competencies for childbirth care: A cross-sectional study

Midwifery, 2021-12, Vol.103, p.103147-103147, Article 103147

2021

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Statistical assessment of predictive modelling uncertainty: a geophysical case study

Geophysical journal international, 2014-04, Vol.197 (1), p.22-32

2014

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Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemia

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements

Influência da metileno-tetrahidrofolato redutase na patogênese das leucemias agudas infantis

High mutation detection rate inTCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA–protein interaction

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

GATA1 Mutations in Clonal Disorders of Children with and without Down Syndrome

GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature

Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome

Para que existem as regras de nomenclatura genética?

Para que existem as regras de nomenclatura genética?

Para que existem as regras de nomenclatura genética? Why are there rules for genetic nomenclature?

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

GATA1 mutations in acute leukemia in children with Down syndrome

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Italian midwives’ education needs analysis on essential competencies for childbirth care: A cross-sectional study

Statistical assessment of predictive modelling uncertainty: a geophysical case study

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