Lista de obras - Millan S Patel - Dominio Público Uruguay

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

artículo científico publicado en 2008

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

artículo científico publicado en 2014

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

artículo científico publicado en 2013

A new insight into the formation of osteolytic lesions in multiple myeloma

artículo científico publicado en 2003

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

artículo científico publicado en 2012

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.

artículo científico publicado en 2004

Adams-Oliver Syndrome

artículo científico publicado en 1993

Alleles of the estrogen receptor alpha-gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasound

artículo científico publicado en 2000

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

artículo científico publicado en 2015

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain

scientific article published on 03 April 2014

Assessment of gene-by-sex interaction effect on bone mineral density

artículo científico publicado en 2012

Associations of the collagen type Ialpha1 Sp1 polymorphism with five-year rates of bone loss in older adults

artículo científico publicado en 2000

Calcium and vitamin D intake and mortality: results from the Canadian Multicentre Osteoporosis Study (CaMos).

artículo científico publicado en 2013

Childhood-onset hemiatrophy caused by unilateral morphea

artículo científico publicado en 2009

Combined immunodeficiency associated with homozygous MALT1 mutations

artículo científico publicado en 2013

Competing Factors Link to Bone Health in Polycystic Ovary Syndrome: Chronic Low-Grade Inflammation Takes a Toll

artículo científico publicado en 2017

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

scientific article published on 18 January 2019

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

artículo científico publicado en 2009

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders

scientific article published on 04 July 2016

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

artículo científico publicado en 2014

Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.

artículo científico publicado en 1999

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia

artículo científico publicado en 2017

Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature

artículo científico publicado en 2015

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

artículo científico

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

artículo científico publicado en 2012

HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development

artículo científico publicado en 2017

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

artículo científico publicado en 2015

Identification of a sequence motif upstream of the Drosophila dopa decarboxylase gene that enhances heterologous gene expression

artículo científico publicado en 1994

Mutations in NOTCH1 cause Adams-Oliver syndrome

artículo científico publicado en 2014

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Cost

artículo científico publicado en 2015

Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report

scientific article published on 27 April 2020

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.

artículo científico publicado en 2011

Preaxial polydactyly in neurofibromatosis 1

artículo científico publicado en 2007

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

artículo científico publicado en 2014

Regulation of bone formation and vision by LRP5

artículo científico publicado en 2002

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria

artículo científico publicado en 2008

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

scientific article published on 01 March 2006

Strabismus genetics across a spectrum of eye misalignment disorders

artículo científico publicado en 2014

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

artículo científico publicado en 2008

The circadian modulation of leptin-controlled bone formation.

artículo científico publicado en 2006

The molecular clock mediates leptin-regulated bone formation

artículo científico publicado en 2005

WNT7b mediates macrophage-induced programmed cell death in patterning of the vasculature

scientific journal article

Lista de obras de Millan S Patel

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

A new insight into the formation of osteolytic lesions in multiple myeloma

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.

Adams-Oliver Syndrome

Alleles of the estrogen receptor alpha-gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasound

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain

Assessment of gene-by-sex interaction effect on bone mineral density

Associations of the collagen type Ialpha1 Sp1 polymorphism with five-year rates of bone loss in older adults

Calcium and vitamin D intake and mortality: results from the Canadian Multicentre Osteoporosis Study (CaMos).

Childhood-onset hemiatrophy caused by unilateral morphea

Combined immunodeficiency associated with homozygous MALT1 mutations

Competing Factors Link to Bone Health in Polycystic Ovary Syndrome: Chronic Low-Grade Inflammation Takes a Toll

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia

Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Identification of a sequence motif upstream of the Drosophila dopa decarboxylase gene that enhances heterologous gene expression

Mutations in NOTCH1 cause Adams-Oliver syndrome

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Cost

Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.

Preaxial polydactyly in neurofibromatosis 1

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

Regulation of bone formation and vision by LRP5

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Strabismus genetics across a spectrum of eye misalignment disorders

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

The circadian modulation of leptin-controlled bone formation.

The molecular clock mediates leptin-regulated bone formation

WNT7b mediates macrophage-induced programmed cell death in patterning of the vasculature