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Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure

Fertility and sterility, 2010-08, Vol.94 (3), p.1097.e5-1097.e8

2010

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625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability

Journal of human genetics, 2015-12, Vol.60 (12), p.777-780

2015

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Torque Teno Virus Viremia Load Size in Patients with Selected Congenital Defects of Innate Immunity

Clinical and Vaccine Immunology, 2011-04, Vol.18 (4), p.692-694

2011

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Acro‐cardio‐facial syndrome: A microdeletion syndrome?

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1994-1999

2012

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Ring chromosome 21 and reproductive pattern: a familial case and review of the literature

Fertility and sterility, 2008-11, Vol.90 (5), p.2004.e1-2004.e5

2008

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A 17q duplication prenatally detected

Taiwanese journal of obstetrics & gynecology, 2015-06, Vol.54 (3), p.326-329

2015

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Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia

Journal of medical genetics, 2016-04, Vol.53 (4), p.242-249

2016

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Pharmacogenetics of anti-estrogen treatment of breast cancer

Cancer treatment reviews, 2012-08, Vol.38 (5), p.442-450

2012

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Cortical myoclonus in angelman syndrome

Annals of neurology, 1996-07, Vol.40 (1), p.39-48

1996

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Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

Case reports in neurological medicine, 2014-01, Vol.2014 (2014), p.1-7

2014

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DPYD6 plays an important role in fluoropyrimidine toxicity in addition to DPYD2A and c.2846A>T: a comprehensive analysis in 1254 patients

The pharmacogenomics journal, 2019-12, Vol.19 (6), p.556-563

2019

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An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature

Gene, 2012-07, Vol.503 (1), p.123-125

2012

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Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant

Pharmacogenomics, 2016-01, Vol.17 (1), p.5-9

2016

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Regulation of telomerase and its hTERT messenger in colorectal cancer

Oncology reports, 2004-02, Vol.11 (2), p.395

2004

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Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

European journal of medical genetics, 2012-05, Vol.55 (5), p.362-366

2012

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A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2389-2392

2013

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Clinical characteristics and genetic analysis in women with premature ovarian insufficiency

Maturitas, 2013-01, Vol.74 (1), p.61-67

2013

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Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia

Pediatric pulmonology, 2015-02, Vol.50 (2), p.179-186

2015

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Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation

Gene, 2013-09, Vol.526 (2), p.490-493

2013

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Myelodysplastic Syndromes: A Multidisciplinary Integrated Diagnostic Work-up for Patients’ Risk Stratification

Blood, 2014-12, Vol.124 (21), p.5579-5579

2014

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Sporadic or familial head neck paragangliomas enrolled in a single center: Clinical presentation and genotype/phenotype correlations

Head & neck, 2013-01, Vol.35 (1), p.23-27

2013

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NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development

Hormone research in paediatrics, 2014-01, Vol.81 (2), p.104-108

2014

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Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

Clinical neurology and neurosurgery, 2014-05, Vol.120, p.14-19

2014

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Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia: MBL-2 Polymorphisms and Lung Damage in PCD

Pediatric pulmonology, 2015-02, Vol.50 (2), p.179-186

2015

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IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene

Hormones (Athens, Greece), 2013, Vol.12 (1), p.86-92

2013

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Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure

625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability

Torque Teno Virus Viremia Load Size in Patients with Selected Congenital Defects of Innate Immunity

Acro‐cardio‐facial syndrome: A microdeletion syndrome?

Ring chromosome 21 and reproductive pattern: a familial case and review of the literature

A 17q duplication prenatally detected

Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia

Pharmacogenetics of anti-estrogen treatment of breast cancer

Cortical myoclonus in angelman syndrome

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

DPYD6 plays an important role in fluoropyrimidine toxicity in addition to DPYD2A and c.2846A>T: a comprehensive analysis in 1254 patients

An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature

Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant

Regulation of telomerase and its hTERT messenger in colorectal cancer

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism

Clinical characteristics and genetic analysis in women with premature ovarian insufficiency

Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation

Myelodysplastic Syndromes: A Multidisciplinary Integrated Diagnostic Work-up for Patients’ Risk Stratification

Sporadic or familial head neck paragangliomas enrolled in a single center: Clinical presentation and genotype/phenotype correlations

NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia: MBL-2 Polymorphisms and Lung Damage in PCD

IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene

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