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16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

artículo científico publicado en 2011

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

artículo científico publicado en 2014

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

artículo científico publicado en 2018

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures

artículo científico publicado en 2015

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation ⬇️

artículo científico publicado el 7 de abril de 2011

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

artículo científico publicado en 2012

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH

artículo científico publicado en 2007

A girl with duplication 17p10-p12 associated with a dicentric chromosome

artículo científico publicado en 2004

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

artículo científico publicado en 2009

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

artículo científico publicado en 2009

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

artículo científico publicado en 2007

Absence of heterozygosity due to template switching during replicative rearrangements

artículo científico publicado en 2015

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

artículo científico publicado en 2015

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

artículo científico publicado en 2009

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

artículo científico publicado en 2017

An estimation of the prevalence of genomic disorders using chromosomal microarray data

scientific article published on 24 April 2018

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

artículo científico publicado en 2012

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

artículo científico publicado en 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

artículo científico publicado en 2012

Assessing structural variation in a personal genome-towards a human reference diploid genome.

artículo científico publicado en 2015

Assessment of the role of copy-number variants in 150 patients with congenital heart defects

artículo científico publicado en 2012

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement

artículo científico publicado en 2008

CAV3 mutation in a patient with transient hyperCKemia and myalgia

artículo científico publicado en 2016

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

artículo científico publicado en 2014

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.

artículo científico publicado en 2017

Centers for Mendelian Genomics: A decade of facilitating gene discovery

artículo científico publicado en 2022

Challenges in clinical interpretation of microduplications detected by array CGH analysis

scientific article published on 01 May 2010

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

artículo científico publicado en 2007

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

artículo científico publicado en 2017

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

artículo científico publicado en 2011

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

artículo científico publicado en 2013

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

artículo científico publicado en 2008

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

artículo científico publicado en 2020

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

artículo científico publicado en 2007

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

artículo científico publicado en 2012

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

artículo científico publicado en 2009

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events ⬇️

artículo científico publicado el 5 de octubre de 2012

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

artículo científico publicado en 2015

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

artículo científico publicado en 2013

Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice

artículo científico publicado en 2014

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

artículo científico publicado en 2012

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

artículo científico publicado en 2019

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

artículo científico publicado en 2007

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

artículo científico publicado en 2011

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

artículo científico publicado en 2016

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

artículo científico publicado en 2011

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

artículo científico publicado en 2015

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

artículo científico publicado en 2010

Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features

artículo científico publicado en 2005

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

artículo científico publicado en 2006

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

artículo científico publicado en 2008

Deciphering the complexity of simple chromosomal insertions by genome sequencing

scientific article published on 29 July 2020

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders ⬇️

artículo científico publicado el 5 de abril de 2012

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

artículo científico publicado en 2013

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

artículo científico publicado en 2011

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

artículo científico publicado en 2014

Detection of clinically relevant exonic copy-number changes by array CGH.

artículo científico publicado en 2010

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

artículo científico publicado en 2012

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

artículo científico publicado en 2012

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

article

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

artículo científico publicado en 2005

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

artículo científico publicado en 2010

Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement

artículo científico publicado en 2012

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

artículo científico publicado en 2011

Efficient Multiple Samples aCGH Analysis for Rare CNVs Detection

Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas

artículo científico publicado en 2005

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics

article

Evidence against ZNF469 being causative for keratoconus in Polish patients

artículo científico publicado en 2016

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

artículo científico publicado en 2006

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

artículo científico publicado en 2010

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

artículo científico publicado en 2013

Functional performance of aCGH design for clinical cytogenetics

artículo científico publicado en 2013

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

artículo científico publicado en 2013

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

artículo científico publicado en 2003

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

artículo científico publicado en 2015

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

artículo científico publicado en 2015

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

artículo científico publicado en 2009

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

artículo científico publicado en 2005

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

artículo científico publicado en 2008

Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia

artículo científico publicado en 2020

HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome ⬇️

artículo científico publicado el 1 de noviembre de 2010

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

artículo científico publicado en 2017

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder ⬇️

artículo científico publicado en 2021

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

artículo científico publicado en 2020

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

artículo científico publicado en 2007

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

artículo científico publicado en 2014

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

artículo científico publicado en 2010

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

artículo científico publicado en 2008

Identification of novel candidate disease genes from de novo exonic copy number variants.

artículo científico publicado en 2017

Incidental copy-number variants identified by routine genome testing in a clinical population

artículo científico publicado en 2012

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

artículo científico publicado en 2015

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

artículo científico publicado en 2017

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

artículo científico publicado en 2010

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

artículo científico publicado en 2011

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

artículo científico publicado en 2019

Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis

artículo científico publicado en 2005

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

artículo científico publicado en 2004

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

artículo científico publicado en 2008

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

artículo científico publicado en 2013

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

artículo científico publicado en 2010

Inverted low-copy repeats and genome instability--a genome-wide analysis

artículo científico publicado en 2012

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

artículo científico publicado en 2007

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

article

Microdeletion and microduplication syndromes.

artículo científico publicado en 2012

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation

artículo científico publicado en 2006

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation

artículo científico publicado en 2005

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

artículo científico publicado en 2014

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

artículo científico publicado en 2005

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

artículo científico

Molecular-evolutionary mechanisms for genomic disorders

artículo científico publicado en 2002

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

artículo científico publicado en 2008

Multiple samples aCGH analysis for rare CNVs detection

artículo científico publicado en 2013

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

artículo científico publicado en 2002

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

artículo científico publicado en 2006

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

artículo científico publicado en 2013

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

artículo científico publicado en 2014

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

scientific article published on 11 January 2019

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

artículo científico publicado en 2012

Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

artículo científico publicado en 2013

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

artículo científico publicado en 2011

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome

artículo científico publicado en 2007

PTCH1 duplication in a family with microcephaly and mild developmental delay

artículo científico publicado en 2008

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

artículo científico publicado en 2014

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

artículo científico publicado en 2014

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2016

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

artículo científico publicado en 2016

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

artículo científico publicado en 2010

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

artículo científico publicado en 2012

Population bottlenecks as a potential major shaping force of human genome architecture

artículo científico publicado en 2007

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

artículo científico publicado en 2005

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

artículo científico publicado en 2021

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

scientific article published on 15 June 2018

Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

artículo científico publicado en 2015

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

artículo científico publicado en 2006

Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions

scientific article published on 01 June 2020

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

artículo científico publicado en 2012

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

artículo científico publicado en 2009

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays

artículo científico publicado en 2013

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

artículo científico publicado en 2011

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

artículo científico publicado en 2010

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia ⬇️

artículo científico publicado el 4 de octubre de 2010

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

article by Melissa B Ramocki et al published July 2011 in American Journal of Medical Genetics

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

artículo científico publicado en 2009

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

artículo científico publicado en 2009

Reply to Amor et al.

artículo científico publicado en 2012

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

scientific article published on 14 June 2006

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay

artículo científico publicado en 2013

SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements

artículo científico publicado en 2017

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway

artículo científico publicado en 2007

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

artículo científico publicado en 2013

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

artículo científico publicado en 2010

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function ⬇️

artículo científico publicado el 14 de agosto de 2012

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

artículo científico publicado en 2004

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

artículo científico publicado en 2012

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

artículo científico publicado en 2012

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

artículo científico publicado en 2014

Somatic mosaicism: implications for disease and transmission genetics

artículo científico publicado en 2015

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats

artículo científico publicado en 2005

Structural variation in the human genome and its role in disease

artículo científico publicado en 2010

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

artículo científico publicado en 2002

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

artículo científico publicado en 2010

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

artículo científico publicado en 2004

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

artículo científico publicado en 2011

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

artículo científico publicado en 2014

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia

scientific article published on 01 October 2019

The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats

artículo científico publicado en 2003

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

artículo científico publicado en 2016

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

artículo científico publicado en 2005

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

artículo científico publicado en 2014

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

artículo científico publicado en 2007

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

artículo científico publicado en 2011

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)] ⬇️

artículo científico publicado el 1 de noviembre de 2003

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family

artículo científico publicado en 2016

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

artículo científico publicado en 2016

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2010

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]

scientific article published on 01 January 2006

[Genetic bases of autism spectrum disorders]

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