A5002468374- Congenital gastrointestinal and neural anomalies
- Hemoglobinopathies and Related Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- Congenital limb and hand anomalies
- Intestinal Malrotation and Obstruction Disorders
- Vitamin C and Antioxidants Research
- Pectus Deformity Diagnosis and Treatment
- Congenital Diaphragmatic Hernia Studies
- Metabolism and Genetic Disorders
- Digestive system and related health
- Genetics and Neurodevelopmental Disorders
- Iron Metabolism and Disorders
- Craniofacial Disorders and Treatments
- Diagnosis and Treatment of Venous Diseases
- Folate and B Vitamins Research
- Retinoids in leukemia and cellular processes
- Congenital Anomalies and Fetal Surgery
- Connective tissue disorders research
- Vasculitis and related conditions
- Blood groups and transfusion
- Fetal and Pediatric Neurological Disorders
- Cardiac Structural Anomalies and Repair
- Hedgehog Signaling Pathway Studies
Istituto Giannina Gaslini
2013-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2021
Ospedale Microcitemico
1984-2014
Laboratory of Molecular Genetics
2009-2012
Lega Italiana per la Lotta ai Tumori
1984-2002
Boston Children's Hospital
2002
University of Genoa
1998-2000
Laboratoire de Génétique Médicale
2000
Medical Genetics Center
2000
Brigham and Women's Hospital
1999
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied clinical features Holt–Oram syndrome caused by 10 different TBX5 mutations. Defects predicted to create null alleles substantial abnormalities both limb heart. In contrast, missense mutations produced distinct phenotypes: Gly80Arg significant cardiac malformations but only minor skeletal abnormalities; Arg237Gln Arg237Trp extensive upper less abnormalities. Amino...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM* 240300, also called APS 1,) is a rare autosomal recessive disorder that more frequent in certain isolated populations. It generally characterized by two of the three major clinical symptoms may be present, Addison's disease and/or hypoparathyroidism chronic mucocutaneous candidiasis. Patients have number other including gastritis, gonadal failure, and rarely, autoimmune thyroid insulin-dependent diabetes mellitus....
Hirschsprung disease, or congenital aganglionic megacolon, is a genetic disorder of neural crest development affecting 1:5,000 newborns. Mutations in the RET proto-oncogene, repeatedly identified heterozygous state both long- and short-segment patients, lead to loss transforming differentiating capacities activated through dominant negative effect when expressed appropriate cellular systems. The approach single-strand conformational polymorphism analysis established for all 20 exons...
Longitudinal bone growth is determined by the process of endochondral ossification in cartilaginous plate, which located at both ends vertebrae and long bones involves many systemic hormones local regulators. We report molecular characterization a de novo balanced t(2;7)(q37.1;q21.3) translocation young female with Marfanoid habitus skeletal anomalies. The was characterized fluorescence situ hybridization (FISH), checked for other abnormalities array-comparative genomic (CGH), finally,...
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use these patients. PROS patients could be ideal candidates enrolment trials with PI3K/AKT inhibitors, considering "clean" cellular...
Tetralogy of Fallot (TOF) (OMIM #187500) is the most frequent conotruncal congenital heart defect (CHD) with a range intra‐ and extracardiac phenotypes. TBX5 transcription factor well‐defined roles in forelimb development, mutations are associated Holt–Oram syndrome (HOS) (OMIM#142900). Here we report on screening 94 TOF patients for TBX5, NKX2.5 GATA4 genes. We identified two heterozygous . One mutation was detected Moroccan patient TOF, large ostium secundum atrial septal complete...
Abstract Background terminal deletions of the distal portion short arm chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental dysmorphisms, microcephaly and ptosis. The phenotype individuals with varies from normal to severe. It was suggested that 1,5 Mb minimal deletion including two genes CRBN CNTN4 is sufficient syndrome. In addition CHL1 gene, mapping at 3p26.3 distally , proposed as candidate for non specific retardation...
In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN-2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 620 Ret gene have been identified. several pedigrees either MEN-2A familial MTC (FMTC) documented germline mutation 618 follows segregation phenotype. The appearance HSCR phenotype such cannot be easily reconciled gain function which is associated dominant oncogenic effect mutations....
Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have genetic basis, though mechanisms underlying development are still unknown. Here we describe couple monozygotic (MZ) twin girls, both presenting Syndrome. They carry de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four which,...
Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded NPPC gene located on chromosome 2q37.1, a molecule that regulates endochondral ossification cartilaginous plate influences longitudinal growth. Two independent studies have described three patients with Marfan-like phenotype presenting de novo balanced translocation involving same...
Background: The Poland anomaly (PA) comprises unilateral absence or hypoplasia of the pectoralis major muscle and a variable degree ipsilateral hand upper limb anomalies. Various anomalies classifications in PA have been previously published. In this work, new classification is proposed, on basis clinical instrumental evaluation 175 patients. Methods: patients followed by multidisciplinary approach, consisting orthopaedic, surgical, genetic chest, limb, ultrasound examination minor muscles,...