Lista de obras - Fortunato Lonardo - Dominio Público Uruguay

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

artículo científico publicado en 2007

A case of short-rib syndrome without polydactyly in a stillborn: a new type?

scientific article published on 01 January 1996

A family with X-linked recessive fusion of metacarpals IV and V

scientific article published on 01 February 2004

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene

scientific article published on 04 April 2006

Al-Awadi/Raas-Rothschild syndrome: two new cases and review

artículo científico publicado en 2007

Baseline inhibin B levels for diagnosis of central precocious puberty in girls

artículo científico publicado en 2013

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers

artículo científico publicado en 2018

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature

artículo científico publicado en 2011

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

artículo científico publicado en 2007

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

article

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

artículo científico publicado en 2007

Cytogenetic study of a cell line of human penile cancer.

artículo científico publicado en 1987

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

artículo científico publicado en 2017

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

artículo científico publicado en 2018

Expression of the autosomal folate-sensitive fragile sites in ten kindreds with Martin-Bell syndrome

scientific article published on 01 January 1986

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

artículo científico publicado en 2016

Genetic Drift: the Salernitan school of medicine: women, men, and children. A syndromological review of the oldest medical school in the western world.

artículo científico publicado en 2013

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene

scientific article published on 01 November 2009

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

artículo científico publicado en 2004

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

artículo científico publicado en 2014

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

artículo científico publicado en 2003

Novel findings in a patient with Weaver or a Weaver-like syndrome

scientific article published on 01 May 1996

Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta

scientific article published on 01 January 1993

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation

artículo científico publicado en 2009

Prenatal diagnosis of Mohr syndrome by ultrasonography

artículo científico publicado en 1985

Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

artículo científico publicado en 1994

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

artículo científico publicado en 2004

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

artículo científico publicado en 2005

Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome

artículo científico publicado en 1988

Report of three cases with tricho-rhino-phalangeal syndrome type I (two cases) and type II (one case)

scientific article published on 01 August 1988

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

artículo científico publicado en 2017

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

artículo científico publicado en 2017

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

artículo científico publicado en 2013

Small 4p16.3 deletions: Three additional patients and review of the literature

article

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

artículo científico publicado en 2018

The promise of non-invasive prenatal testing needs to be monitored scientifically

artículo científico publicado en 2015

Two sibs affected by Pendred's syndrome in a family with recurrent goiter

artículo científico publicado en 1987

[Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases]

artículo científico publicado en 1983

Lista de obras de Fortunato Lonardo

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

A case of short-rib syndrome without polydactyly in a stillborn: a new type?

A family with X-linked recessive fusion of metacarpals IV and V

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene

Al-Awadi/Raas-Rothschild syndrome: two new cases and review

Baseline inhibin B levels for diagnosis of central precocious puberty in girls

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Cytogenetic study of a cell line of human penile cancer.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Expression of the autosomal folate-sensitive fragile sites in ten kindreds with Martin-Bell syndrome

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

Genetic Drift: the Salernitan school of medicine: women, men, and children. A syndromological review of the oldest medical school in the western world.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

Novel findings in a patient with Weaver or a Weaver-like syndrome

Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation

Prenatal diagnosis of Mohr syndrome by ultrasonography

Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome

Report of three cases with tricho-rhino-phalangeal syndrome type I (two cases) and type II (one case)

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

Small 4p16.3 deletions: Three additional patients 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

The promise of non-invasive prenatal testing needs to be monitored scientifically

Two sibs affected by Pendred's syndrome in a family with recurrent goiter

[Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases]