Filtros de búsqueda

Lista de obras de Orsetta Zuffardi

"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis

scientific article published on 01 December 1976

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

artículo científico publicado en 2007

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias ⬇️

artículo científico publicado el 29 de febrero de 2012

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

artículo científico publicado en 2002

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome

artículo científico publicado en 2012

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

artículo científico publicado en 2005

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

artículo científico publicado en 2008

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

artículo científico publicado en 2005

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

artículo científico publicado en 2006

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

artículo científico publicado en 2008

A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region.

artículo científico publicado en 2015

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 de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

artículo científico publicado en 1991

A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20 ⬇️

artículo científico publicado el 1 de agosto de 1988

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

artículo científico publicado en 2008

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

scientific article published on 01 June 2010

A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.

artículo científico publicado en 2007

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

artículo científico publicado en 2006

A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.

artículo científico publicado en 2008

A newborn with ambiguous genitalia and a complex X;Y rearrangement

artículo científico publicado en 2014

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

artículo científico publicado en 2006

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

artículo científico publicado en 2015

A patient with duplication (7)(p22.1pter) characterized by array-CGH

artículo científico publicado en 2007

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY

artículo científico publicado en 2000

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

artículo científico publicado en 2013

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics

artículo científico publicado en 2008

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

artículo científico publicado en 2008

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

artículo científico publicado en 2004

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes

scientific article published on 01 May 2010

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis

scientific article published on 01 December 2011

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

artículo científico publicado en 2015

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

artículo científico publicado en 1982

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

artículo científico publicado en 2012

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

artículo científico publicado en 1993

Array technology in prenatal diagnosis.

scientific article published on 05 January 2011

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

artículo científico publicado en 1980

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?

artículo científico publicado en 1997

Bone osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients

artículo científico publicado en 2010

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

artículo científico publicado en 2010

Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors

artículo científico publicado en 2011

Changes in the fluorescence patterns of translocated Y chromosome segments in Drosophila melanogaster

artículo científico publicado en 1971

Characterization of a recurrent 15q24 microdeletion syndrome.

artículo científico publicado en 2007

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

artículo científico publicado en 2008

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

artículo científico publicado en 2006

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

artículo científico publicado en 2015

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

artículo científico publicado en 2008

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).

artículo científico publicado en 2012

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

scientific article published on 01 January 1995

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

artículo científico publicado en 2009

Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia

artículo científico publicado en 2015

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant

scientific article published on 08 December 2007

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

artículo científico publicado en 2014

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

Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer

artículo científico

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? ⬇️

artículo científico publicado el 10 de febrero de 2011

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

artículo científico publicado en 2013

De novo unbalanced translocations have a complex history/aetiology

artículo científico publicado en 2018

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

artículo científico publicado en 2012

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

artículo científico publicado en 1983

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

artículo científico publicado en 2014

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

artículo científico publicado en 2011

Definitive assignment of the growth hormone-releasing factor gene to 20q11.2.

artículo científico publicado en 1994

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation

artículo científico publicado en 2011

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

artículo científico publicado en 2006

Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

artículo científico publicado en 1990

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing

artículo científico publicado en 2013

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

scientific article published on 30 May 2009

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

artículo científico publicado en 2005

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

artículo científico publicado en 2001

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

artículo científico publicado en 2016

Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease.

artículo científico publicado en 2009

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

artículo científico publicado en 2013

Dup(3)(p2----pter) in two families, including one infant with cyclopia

artículo científico publicado en 1985

Duplication of the short arm of chromosome 9. Analysis of five cases

artículo científico publicado en 1982

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

scientific article published on 15 November 2007

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

artículo científico publicado en 2008

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker

scientific article published on 23 July 2009

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.

artículo científico publicado en 2007

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Evolutionary and clinical neocentromeres: two faces of the same coin?

artículo científico publicado en 2008

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally

artículo científico publicado en 2008

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

artículo científico publicado en 2020

Familial XX true hermaphroditism and the H-Y antigen ⬇️

artículo científico publicado el 17 de abril de 1979

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members

artículo científico publicado en 2008

Fluorescence and Y translocation in XX males

Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms

artículo científico publicado en 2014

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

scientific article published on 01 May 1993

Further delineation of the KAT6B molecular and phenotypic spectrum

artículo científico publicado en 2014

Gene copy number variation in male breast cancer by aCGH.

artículo científico publicado en 2011

Gene copy number variation in male breast cancer by aCGH.

artículo científico publicado en 2010

Gene 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)

artículo científico publicado en 2002

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus

scientific article published on 01 January 1982

Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach

artículo científico publicado en 2013

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

artículo científico publicado en 2003

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

artículo científico publicado en 2010

Guidelines for molecular karyotyping in constitutional genetic diagnosis

artículo científico publicado en 2007

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

artículo científico publicado en 2017

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

artículo científico publicado en 2012

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature

artículo científico publicado en 2014

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

artículo científico publicado en 2010

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma

artículo científico publicado en 2009

Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

artículo científico publicado en 2008

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes

artículo científico publicado en 1998

Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues

artículo científico publicado en 1998

Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms

artículo científico publicado en 2007

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation

artículo científico publicado en 2014

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

artículo científico publicado en 1996

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

artículo científico publicado en 2012

Identification of normal and abnormal chromosomes in tumor cells

artículo científico publicado en 1973

Identification of novel prognostic markers in relapsing localized resectable neuroblastoma.

scientific article published on 14 February 2011

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

artículo científico publicado en 2014

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

artículo científico publicado en 2014

Indirect immunofluorescence of inactive centromeres as indicator of centromeric function

artículo científico publicado en 1986

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

artículo científico publicado en 2008

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation

artículo científico

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

scientific article published on 01 August 2000

Inverted duplications: how many of them are mosaic?

artículo científico publicado en 2004

Isochromosomes and malignant growth

article published in 1972

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm

artículo científico publicado el 28 de octubre de 1976

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

artículo científico publicado en 2015

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

artículo científico

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

artículo científico publicado en 2017

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

artículo científico publicado en 2012

MECP2 duplication phenotype in symptomatic females: report of three further cases.

artículo científico publicado en 2014

MEF2C deletions and mutations versus duplications: a clinical comparison.

artículo científico publicado en 2013

Male infertility and 13-14 translocation

Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

artículo científico publicado en 2006

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes

artículo científico publicado en 2009

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 ⬇️

artículo científico publicado el 1 de abril de 2012

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases

artículo científico publicado en 2005

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases

artículo científico publicado en 2008

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

artículo científico publicado en 2008

Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1.

artículo científico publicado en 1994

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)

artículo científico publicado en 1996

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

artículo científico publicado en 2011

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

scientific article published on 15 October 2008

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

artículo científico publicado en 2013

Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?

artículo científico publicado en 2009

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.

artículo científico publicado en 2013

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

artículo científico publicado en 2010

Narrowing the deleted region associated with the 15q21 syndrome

scientific article published on 01 July 2005

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

artículo científico publicado en 2015

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation ⬇️

artículo científico publicado el 23 de diciembre de 1977

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

artículo científico publicado en 2010

On the synthesis of poliovirus RNA at supraoptimal temperatures

scientific article published on 01 April 1971

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

artículo científico publicado en 2000

Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute.

artículo científico publicado en 2007

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

artículo científico publicado en 2007

PRKACB and Carney complex.

artículo científico publicado en 2014

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

artículo científico publicado en 2013

Partial trisomy 3q in a newborn female

artículo científico publicado el 1 de julio de 1977

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

artículo científico publicado en 2012

Periventricular nodular heterotopia in Smith-Magenis syndrome

artículo científico publicado en 2014

Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.

artículo científico publicado en 2009

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

artículo científico publicado en 2013

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.

artículo científico publicado en 1993

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

artículo científico publicado en 2015

Probe St35-239 (DXYS64) reveals homology between the distal ends of Xq and Yq.

artículo científico publicado en 1991

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

artículo científico

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

article

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

artículo científico publicado en 2020

Reciprocal translocations: a trap for cytogenetists?

artículo científico publicado en 2005

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

artículo científico publicado en 2013

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Refining the phenotype associated with MEF2C haploinsufficiency.

artículo científico publicado en 2010

Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1.

scientific article published on 01 February 1993

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

article

Reply to Sajantila and Budowle

artículo científico publicado en 2015

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

artículo científico publicado en 2007

Ring chromosome and latent centromeres

artículo científico publicado en 1980

Ring syndrome: still true?

scientific article published on 01 November 2008

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

article

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

artículo científico publicado en 2014

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

artículo científico publicado en 2010

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

artículo científico publicado en 2014

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

artículo científico publicado en 2010

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

artículo científico publicado en 2014

Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.

artículo científico publicado en 2012

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

artículo científico publicado en 2009

Subtelomeric trisomy 21q: A new benign chromosomal variant

artículo científico publicado en 2006

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

artículo científico publicado en 2014

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

artículo científico publicado en 2014

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

The Cd technique identifies a specific structure related to centromeric function

scientific article published on 01 January 1984

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

artículo científico publicado en 2015

The cDNA sequence and chromosomal location of the human SOX2 gene

artículo científico publicado en 1994

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

artículo científico publicado en 2022

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome

artículo científico publicado en 1998

The genetics of small-vessel disease.

artículo científico publicado en 2012

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

The syndrome of partial trisomy 14q

scientific article published on 01 November 1976

The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.

artículo científico publicado en 1992

Trisomy 16q21 = to qter

artículo científico publicado en 1980

Turner syndrome patients are H-Y positive

artículo científico publicado en 1980

Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.

artículo científico publicado en 2011

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

artículo científico publicado en 2007

Unexpected results in the constitution of small supernumerary marker chromosomes

artículo científico publicado en 2012

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

artículo científico publicado en 2014

XX males SRY negative: a confirmed cause of infertility

artículo científico publicado en 2011

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

artículo científico publicado en 2010

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

artículo científico publicado en 2008

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

artículo científico publicado en 2008

rDNA levels in infertile male carriers of Robertsonian translocations

artículo científico publicado en 1980

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda