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Mutations in Fanconi anemia genes and the risk of esophageal cancer

Human genetics, 2011-05, Vol.129 (5), p.573-582

2011

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Rare variants in FANCA induce premature ovarian insufficiency

Human genetics, 2019-12, Vol.138 (11-12), p.1227-1236

2019

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Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency

Human genetics, 2021-04, Vol.140 (4), p.691-694

2021

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Response to the letter to the editor “Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency”

Human genetics, 2021-04, Vol.140 (4), p.695-697

2021

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Hereditary breast cancer: new genetic developments, new therapeutic avenues

Human genetics, 2008-08, Vol.124 (1), p.31-42

2008

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Rare loss of function variants in candidate genes and risk of colorectal cancer

Human genetics, 2018-10, Vol.137 (10), p.795-806

2018

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The neurobeachin gene spans the common fragile site FRA13A

Human genetics, 2006-01, Vol.118 (5), p.551-558

2006

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The role of oxygen metabolism for the pathological phenotype of Fanconi anemia

Human genetics, 1997-06, Vol.99 (6), p.710-719

1997

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Abnormal lymphokine production : a novel feature of the genetic disease Fanconi anemia. I: Involvement of interleukin-6

Human genetics, 1992-04, Vol.89 (1), p.42-48

1992

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Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese

Human genetics, 2002-01, Vol.110 (1), p.57-63

2002

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Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

Human genetics, 1997-07, Vol.100 (2), p.256-262

1997

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Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

Human genetics, 2001-03, Vol.108 (2), p.167-173

2001

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Rapid antibody test for diagnosing fragile X syndrome : a validation of the technique

Human genetics, 1997-03, Vol.99 (3), p.308-311

1997

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Hypomethylation of classical satellite DNA and chromosome instability in lymphoblastoid cell lines

Human genetics, 1993-07, Vol.91 (6), p.538-546

1993

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Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant

Human genetics, 1996-11, Vol.98 (5), p.522-523

1996

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Fanconi anaemia in Italy : high prevalence of complementation group A in two geographic clusters

Human genetics, 1996-05, Vol.97 (5), p.599-603

1996

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Transferable clastogenic activity in plasma from patients with Fanconi anemia

Human genetics, 1995-07, Vol.96 (1), p.14-20

1995

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Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Human genetics, 1999-11, Vol.105 (5), p.496-500

1999

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Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population

Human genetics, 2003-10, Vol.113 (5), p.371-376

2003

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Antioxidant status of Fanconi anemia fibroblasts

Human genetics, 1987-09, Vol.77 (1), p.28-31

1987

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Screening with the FMR1 protein test among mentally retarded males

Human genetics, 1998-10, Vol.103 (4), p.520-522

1998

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Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes

Human genetics, 1997-12, Vol.101 (3), p.312-316

1997

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Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment

Human genetics, 1987, Vol.75 (1), p.45-47

1987

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Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

Human genetics, 1997, Vol.99 (1), p.93-97

1997

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A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males

Human genetics, 1996-06, Vol.97 (6), p.808-812

1996

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Mutations in Fanconi anemia genes and the risk of esophageal cancer

Rare variants in FANCA induce premature ovarian insufficiency

Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency

Response to the letter to the editor “Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency”

Hereditary breast cancer: new genetic developments, new therapeutic avenues

Rare loss of function variants in candidate genes and risk of colorectal cancer

The neurobeachin gene spans the common fragile site FRA13A

The role of oxygen metabolism for the pathological phenotype of Fanconi anemia

Abnormal lymphokine production : a novel feature of the genetic disease Fanconi anemia. I: Involvement of interleukin-6

Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

Rapid antibody test for diagnosing fragile X syndrome : a validation of the technique

Hypomethylation of classical satellite DNA and chromosome instability in lymphoblastoid cell lines

Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant

Fanconi anaemia in Italy : high prevalence of complementation group A in two geographic clusters

Transferable clastogenic activity in plasma from patients with Fanconi anemia

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population

Antioxidant status of Fanconi anemia fibroblasts

Screening with the FMR1 protein test among mentally retarded males

Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes

Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males

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