Lista de obras - Hoyme HE - Dominio Público Uruguay

A brief history of autism, the autism/vaccine hypothesis and a review of the genetic basis of autism spectrum disorders.

artículo científico

A clinical genetics and dysmorphology approach to growth deficiency.

artículo científico publicado en 2000

Adaptive behaviour in children and adolescents with foetal alcohol spectrum disorders: a comparison with specific learning disability and typical development

artículo científico publicado en 2012

Advances in Whole-Genome Genetic Testing: From Chromosomes to Microarrays ⬇️

artículo científico publicado el 1 de marzo de 2012

Alcohol consumption and other maternal risk factors for fetal alcohol syndrome among three distinct samples of women before, during, and after pregnancy: the risk is relative.

artículo científico publicado en 2004

An FMRI study of number processing in children with fetal alcohol syndrome.

artículo científico publicado en 2010

Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation

artículo científico publicado en 1987

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?

artículo científico publicado en 2005

Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities ⬇️

artículo científico publicado el 6 de enero de 1998

Bronchoscopic evaluation of airway obstruction in campomelic dysplasia.

artículo científico publicado en 1987

Carbohydrate metabolism in Acanthamoeba castellanii. I. The activity of key enzymes and (14C)-glucose metabolism

artículo científico publicado en 1973

Cardiac teratogenicity of dichloroethylene in a chick model.

artículo científico publicado en 1992

Clinical and molecular diagnosis of Miller-Dieker syndrome ⬇️

artículo científico publicado el 1 de marzo de 1991

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

artículo científico publicado en 2016

Congenital oral tumor associated with neurofibromatosis detected by prenatal ultrasound

artículo científico publicado en 1987

Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome

scientific article published on 01 April 1993

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.

artículo científico publicado en 2009

Diagnosis and management of the adolescent boy with Klinefelter syndrome.

artículo científico publicado en 2002

Dietary intake, nutrition, and fetal alcohol spectrum disorders in the Western Cape Province of South Africa

artículo científico publicado en 2014

Duplication (17p) in a child with an isodicentric (17p) chromosome

scientific article published on 01 January 1983

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

artículo científico publicado en 2002

Ectopia lentis as the presenting and primary feature in Marfan syndrome

scientific article published on 19 September 2011

Efficacy of Maternal Choline Supplementation During Pregnancy in Mitigating Adverse Effects of Prenatal Alcohol Exposure on Growth and Cognitive Function: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial

artículo científico publicado en 2018

Elements of morphology: standard terminology for the head and face.

artículo científico publicado en 2009

Epigenetics in pediatrics

artículo científico

FISHing for answers: the use of molecular cytogenetic techniques in adolescent medicine practice.

artículo científico publicado en 2002

Fellowships and career development in dysmorphology and clinical genetics

artículo científico publicado el 1 de abril de 1992

Fetal alcohol spectrum disorders: Extending the range of structural defects

artículo científico publicado en 2010

Fetal alcohol syndrome epidemiology in a South African community: a second study of a very high prevalence area.

artículo científico publicado en 2005

Follow-up of children of depressed mothers exposed or not exposed to antidepressant drugs during pregnancy ⬇️

artículo científico publicado el 1 de abril de 2003

Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.

artículo científico publicado en 1993

Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery.

artículo científico publicado en 1983

Hyalinosis, Inherited Systemic

artículo científico publicado en 2013

Identification of a balanced translocation carrier by spouse's low maternal serum alpha fetoprotein associated with an aneuploid fetus ⬇️

artículo científico publicado el 1 de noviembre de 1990

Impaired Delay and Trace Eyeblink Conditioning in School-Age Children With Fetal Alcohol Syndrome ⬇️

artículo científico publicado el 12 de noviembre de 2010

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

artículo científico publicado en 2006

Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature

artículo científico publicado en 2012

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

artículo científico publicado en 2005

Maternal alcohol consumption producing fetal alcohol spectrum disorders (FASD): quantity, frequency, and timing of drinking.

artículo científico publicado en 2013

Maternal factors predicting cognitive and behavioral characteristics of children with fetal alcohol spectrum disorders

scientific article published on June 2013

Maternal nutritional status as a contributing factor for the risk of fetal alcohol spectrum disorders.

artículo científico publicado en 2015

Maternal risk factors for fetal alcohol spectrum disorders in a province in Italy.

artículo científico publicado en 2014

Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion

artículo científico publicado en 2003

Minor malformations. Significant or insignificant?

scientific article published on 01 September 1987

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

article

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports

artículo científico publicado en 2003

Morphogenesis: clinical natural history and imaging information on patients included in reports

scientific article published on 01 February 2003

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

artículo científico publicado en 2006

Neonatal hemorrhage secondary to thrombocytopenia: an occasional effect of prenatal hydantoin exposure.

artículo científico publicado en 1982

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

artículo científico publicado en 2004

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

artículo científico publicado en 2007

Pathogenesis of sirenomelia: an editorial comment

artículo científico publicado en 1988

Pharmacogenomics: the future of drug therapy.

artículo científico publicado en 2002

Phenotypic and genotypic heterogeneity in familial Milroy lymphedema

artículo científico publicado en 1998

Population differences in dysmorphic features among children with fetal alcohol spectrum disorders

artículo científico publicado en 2010

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation

article

Prenatal alcohol exposure alters the patterns of facial asymmetry.

artículo científico publicado en 2010

Prenatal alcohol exposure and interhemispheric transfer of tactile information: Detroit and Cape Town findings.

artículo científico publicado en 2009

Prevalence and characteristics of fetal alcohol spectrum disorders.

artículo científico publicado en 2014

Prevalence and characteristics of fetal alcohol syndrome and partial fetal alcohol syndrome in a Rocky Mountain Region City.

artículo científico publicado en 2015

Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in-school studies.

artículo científico publicado en 2009

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?

scientific article published on 01 March 2008

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

artículo científico publicado en 2004

Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders

artículo científico publicado en 2007

Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)

scientific article published on 16 October 2006

Teratology in Pediatric Practice ⬇️

artículo científico publicado el 1 de febrero de 1992

Terminal deletion of 6p results in a recognizable phenotype.

artículo científico publicado en 2005

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

artículo científico publicado en 2004

The effects of fetal alcohol syndrome on response execution and inhibition: an event-related potential study.

artículo científico publicado en 2009

The practice of clinical genetics: a survey of practitioners

scientific article published on 01 May 2002

The vascular pathogenesis of some sporadically occurring limb defects

scientific article published on 01 October 1983

Toriello-Carey syndrome: Delineation and review

article

Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: case report

artículo científico publicado en 1986

Unilateral aquagenic wrinkling of the palms associated with aspirin intake

artículo científico publicado en 2006

Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis.

artículo científico publicado en 1993

Vascular etiology of disruptive structural defects in monozygotic twins

artículo científico publicado en 1981

Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia.

artículo científico publicado en 1982

Vascular pathogenesis of transverse limb reduction defects

artículo científico publicado en 1982

Vascular pathogenesis of unilateral craniofacial defects

scientific article published on 01 August 1987

Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.

artículo científico publicado en 2005

von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.

artículo científico publicado en 1994

Lista de obras de Hoyme HE

A brief history of autism, the autism/vaccine hypothesis and a review of the genetic basis of autism spectrum disorders.

A clinical genetics and dysmorphology approach to growth deficiency.

Adaptive behaviour in children and adolescents with foetal alcohol spectrum disorders: a comparison with specific learning disability and typical development

Advances in Whole-Genome Genetic Testing: From Chromosomes to Microarrays ⬇️

Alcohol consumption and other maternal risk factors for fetal alcohol syndrome among three distinct samples of women before, during, and after pregnancy: the risk is relative.

An FMRI study of number processing in children with fetal alcohol syndrome.

Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?

Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities ⬇️

Bronchoscopic evaluation of airway obstruction in campomelic dysplasia.

Carbohydrate metabolism in Acanthamoeba castellanii. I. The activity of key enzymes and (14C)-glucose metabolism

Cardiac teratogenicity of dichloroethylene in a chick model.

Clinical and molecular diagnosis of Miller-Dieker syndrome ⬇️

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

Congenital oral tumor associated with neurofibromatosis detected by prenatal ultrasound

Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.

Diagnosis and management of the adolescent boy with Klinefelter syndrome.

Dietary intake, nutrition, and fetal alcohol spectrum disorders in the Western Cape Province of South Africa

Duplication (17p) in a child with an isodicentric (17p) chromosome

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

Ectopia lentis as the presenting and primary feature in Marfan syndrome

Efficacy of Maternal Choline Supplementation During Pregnancy in Mitigating Adverse Effects of Prenatal Alcohol Exposure on Growth and Cognitive Function: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial

Elements of morphology: standard terminology for the head and face.

Epigenetics in pediatrics

FISHing for answers: the use of molecular cytogenetic techniques in adolescent medicine practice.

Fellowships and career development in dysmorphology and clinical genetics

Fetal alcohol spectrum disorders: Extending the range of structural defects

Fetal alcohol syndrome epidemiology in a South African community: a second study of a very high prevalence area.

Follow-up of children of depressed mothers exposed or not exposed to antidepressant drugs during pregnancy ⬇️

Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.

Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery.

Hyalinosis, Inherited Systemic

Identification of a balanced translocation carrier by spouse's low maternal serum alpha fetoprotein associated with an aneuploid fetus ⬇️

Impaired Delay and Trace Eyeblink Conditioning in School-Age Children With Fetal Alcohol Syndrome ⬇️

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

Maternal alcohol consumption producing fetal alcohol spectrum disorders (FASD): quantity, frequency, and timing of drinking.

Maternal factors predicting cognitive and behavioral characteristics of children with fetal alcohol spectrum disorders

Maternal nutritional status as a contributing factor for the risk of fetal alcohol spectrum disorders.

Maternal risk factors for fetal alcohol spectrum disorders in a province in Italy.

Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion

Minor malformations. Significant or insignificant?

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports

Morphogenesis: clinical natural history and imaging information on patients included in reports

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

Neonatal hemorrhage secondary to thrombocytopenia: an occasional effect of prenatal hydantoin exposure.

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

Pathogenesis of sirenomelia: an editorial comment

Pharmacogenomics: the future of drug therapy.

Phenotypic and genotypic heterogeneity in familial Milroy lymphedema

Population differences in dysmorphic features among children with fetal alcohol spectrum disorders

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation

Prenatal alcohol exposure alters the patterns of facial asymmetry.

Prenatal alcohol exposure and interhemispheric transfer of tactile information: Detroit and Cape Town findings.

Prevalence and characteristics of fetal alcohol spectrum disorders.

Prevalence and characteristics of fetal alcohol syndrome and partial fetal alcohol syndrome in a Rocky Mountain Region City.

Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in-school studies.

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders

Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)

Teratology in Pediatric Practice ⬇️

Terminal deletion of 6p results in a recognizable phenotype.

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

The effects of fetal alcohol syndrome on response execution and inhibition: an event-related potential study.

The practice of clinical genetics: a survey of practitioners

The vascular pathogenesis of some sporadically occurring limb defects

Toriello-Carey syndrome: Delineation and review

Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: case report

Unilateral aquagenic wrinkling of the palms associated with aspirin intake

Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis.

Vascular etiology of disruptive structural defects in monozygotic twins

Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia.

Vascular pathogenesis of transverse limb reduction defects

Vascular pathogenesis of unilateral craniofacial defects