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Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome

Journal of dermatological science, 2015-05, Vol.78 (2), p.158-160

2015

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Human amniotic fluid-derived stem cells are rejected after transplantation in the myocardium of normal, ischemic, immuno-suppressed or immuno-deficient rat

Journal of molecular and cellular cardiology, 2007-04, Vol.42 (4), p.746-759

2007

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De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

Gene, 2013-07, Vol.524 (2), p.368-372

2013

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Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina

Human mutation, 2013-01, Vol.34 (1), p.229-236

2013

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Ring 17 syndrome: first clinical report without intellectual disability

Epileptic disorders, 2015-03, Vol.17 (1), p.84-88

2015

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novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

Gene, 2013, Vol.524 (2), p.368-372

2013

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The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

Annali dell'Istituto superiore di sanita, 2018-01, Vol.54 (2), p.109

2018

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De novo balanced chromosome rearrangements in prenatal diagnosis

Prenatal diagnosis, 2009-03, Vol.29 (3), p.257-265

2009

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Mesenchymal stromal cells can be derived from bone marrow CD133+ cells: implications for therapy

Stem cells and development, 2009-04, Vol.18 (3), p.497

2009

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Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

JIMD Reports, Volume 14, 2014-01, Vol.14, p.1-9

2014

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Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis

Clinical genetics, 2007-11, Vol.72 (5), p.487-489

2007

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Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy

Genetic testing and molecular biomarkers, 2010-10, Vol.14 (5), p.695

2010

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Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Genetics in medicine, 2005-11, Vol.7 (9), p.620-625

2005

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1q44-qter trisomy: clinical report and review of the literature

Genetic testing and molecular biomarkers, 2009-02, Vol.13 (1), p.79

2009

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De novo balanced chromosome rearrangements in prenatal diagnosis

Prenatal diagnosis, 2009, Vol.29 (3), p.257-265

2009

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Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man

Human genetics, 1989-02, Vol.81 (3), p.291-294

1989

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Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome

Journal of dermatological science, 2015, Vol.78 (2), p.158-160

2015

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SPONTANEOUS RESOLUTION OF CYSTIC HYGROMA IN A 46,XX NORMAL FEMALE

Prenatal diagnosis, 1990-06, Vol.10 (6), p.399-403

1990

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Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis

Clinical genetics, 2007, Vol.72 (5), p.487-489

2007

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Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality

Clinical genetics, 1984-03, Vol.25 (3), p.242-247

1984

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Study on Segregation and Risk for Abnormal Offspring in Carriers of Pericentric Inversion of the (p11 — q13) Segment of Chromosome 2

Obstetrical & gynecological survey, 1981-06, Vol.36 (6), p.314-315

1981

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Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11←q13) segment of chromosome 2

Clinical genetics, 1980-12, Vol.18 (6), p.402-407

1980

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Down syndrome in the Belluno district (Veneto region, Northeast Italy): Age distribution and morbidity

American journal of medical genetics, 1990, Vol.37 (S7), p.84-86

1990

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Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a

International journal of molecular sciences, 2022-12, Vol.24 (1), p.232

2022

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PPARA Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-Lipid

Diabetes (New York, N.Y.), 2020-04, Vol.69 (4), p.771-783

2020

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Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome

Human amniotic fluid-derived stem cells are rejected after transplantation in the myocardium of normal, ischemic, immuno-suppressed or immuno-deficient rat

De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina

Ring 17 syndrome: first clinical report without intellectual disability

novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

De novo balanced chromosome rearrangements in prenatal diagnosis

Mesenchymal stromal cells can be derived from bone marrow CD133+ cells: implications for therapy

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis

Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

1q44-qter trisomy: clinical report and review of the literature

De novo balanced chromosome rearrangements in prenatal diagnosis

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man

Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome

SPONTANEOUS RESOLUTION OF CYSTIC HYGROMA IN A 46,XX NORMAL FEMALE

Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis

Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality

Study on Segregation and Risk for Abnormal Offspring in Carriers of Pericentric Inversion of the (p11 — q13) Segment of Chromosome 2

Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11←q13) segment of chromosome 2

Down syndrome in the Belluno district (Veneto region, Northeast Italy): Age distribution and morbidity

Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a

PPARA Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-Lipid

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