about
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR geneInner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneityA SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature reviewGene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sBrain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient.Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.Transmission of a fully functional human neocentromere through three generations.Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.Structure and mutation analysis of the glycogen storage disease type 1b gene.Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppressionDeterminants of vitamin d levels in children and adolescents with down syndromeLong-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM.Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.SLMSuite: a suite of algorithms for segmenting genomic profiles.SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic typeLessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.Inverted duplications: how many of them are mosaic?Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases.Expression of β-adrenergic receptors in pediatric malignant brain tumors.Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549, 931 births in Tuscany.Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
S Giglio
@ast
Sabrina Giglio
@de
Sabrina Giglio
@en
Sabrina Giglio
@es
Sabrina Giglio
@nl
type
label
S Giglio
@ast
Sabrina Giglio
@de
Sabrina Giglio
@en
Sabrina Giglio
@es
Sabrina Giglio
@nl
altLabel
S. Giglio
@en
prefLabel
S Giglio
@ast
Sabrina Giglio
@de
Sabrina Giglio
@en
Sabrina Giglio
@es
Sabrina Giglio
@nl
P1053
E-6436-2018
P106
P1153
57190517828
6603977215
P21
P31
P496
0000-0002-3954-326X