Lista de obras - Julie McGaughran - Dominio Público Uruguay

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

artículo científico publicado en 2016

A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype

artículo científico publicado en 2000

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

artículo científico publicado en 2016

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

artículo científico publicado en 2006

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

article

A multidisciplinary renal genetics clinic improves patient diagnosis

article

A protocol for the identification and validation of novel genetic causes of kidney disease

artículo científico publicado en 2015

A rare case of a de novo dup(19q) associated with a mild phenotype.

artículo científico publicado en 2002

A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: Confirmation of the Dinno syndrome

artículo científico publicado en 2012

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

scientific article published on 01 February 2008

A severe case of oculo-ectodermal syndrome?

artículo científico publicado en 2002

Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21

artículo científico publicado en 2001

Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome

scientific article published on 01 January 2001

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.

artículo científico publicado en 2015

Audiological abnormalities in the Klippel-Feil syndrome

artículo científico publicado en 1998

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

artículo científico publicado en 2013

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

artículo científico publicado en 2011

COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

artículo científico publicado en 2015

Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: insights from cardiac magnetic resonance in clinical screening: Camuglia MYBPC3 gene mutation and MRI.

artículo científico publicado en 2013

Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman.

artículo científico publicado en 2003

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

artículo científico publicado en 2016

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

artículo científico publicado en 2001

Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand

article

Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation

artículo científico publicado en 2002

Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association.

artículo científico publicado en 2002

Craniofrontonasal syndrome and diaphragmatic hernia

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

article

Establishment of an Australian National Genetic Heart Disease Registry.

artículo científico publicado en 2008

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

artículo científico publicado en 2016

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

artículo científico publicado en 2006

Factors influencing uptake of familial long QT syndrome genetic testing

artículo científico publicado en 2015

Fanconi anemia and primary cataracts: first case

scientific article published on 01 December 2002

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

artículo científico publicado en 2009

Further delineation of the KAT6B molecular and phenotypic spectrum

artículo científico publicado en 2014

Geleophysic dysplasia: A report of three affected boys—prenatal ultrasound does not detect recurrence

artículo científico publicado en 1995

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

artículo científico publicado en 2012

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

artículo científico

Health status of cardiac genetic disease patients and their at-risk relatives

artículo científico publicado en 2011

Hereditary pancreatitis in a family of Aboriginal descent

scientific article published on 01 August 2004

Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study.

artículo científico publicado en 2017

Improving identification of lynch syndrome patients: a comparison of research data with clinical records

artículo científico publicado en 2013

Interstitial deletion of 3p22.2-p24.2: the first reported case

artículo científico publicado en 2001

KBG syndrome: An Australian experience.

artículo científico publicado en 2017

Klippel-Feil anomaly and neural tube defects

scientific article published on 01 June 2004

Klippel-Feil anomaly in Fanconi anemia

artículo científico publicado en 2003

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

artículo científico publicado en 2002

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

artículo científico publicado en 2001

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

artículo científico publicado en 2005

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

artículo científico publicado en 2010

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

artículo científico publicado en 1997

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

artículo científico publicado en 2008

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

artículo científico publicado en 2003

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

artículo científico publicado en 2014

Nasal encephalocele in a child with mosaic trisomy 14

artículo científico publicado en 2009

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan

artículo científico publicado en 2009

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

artículo científico publicado en 2017

Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion

artículo científico publicado en 2012

Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy

artículo científico publicado en 2017

Positional cloning of a gene involved in hereditary multiple exostoses

artículo científico publicado en 1996

Prenatal diagnosis of Smith-Lemli-Optiz syndrome

artículo científico publicado en 1995

Prenatal diagnosis of mosaic trisomy 20 in New Zealand.

artículo científico publicado en 2002

Prenatal diagnosis of partial tetrasomy 14: a case study.

artículo científico publicado en 2002

Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion.

artículo científico publicado en 2010

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

artículo científico publicado en 2017

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

artículo científico publicado en 2005

Referral of Queensland women with endometrial cancer to genetic services.

artículo científico publicado en 2012

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

artículo científico publicado en 2005

Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome.

artículo científico publicado en 2011

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

artículo científico publicado en 1997

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The future of clinical genetics.

artículo científico publicado en 2010

Toriello-Carey syndrome: case report with additional findings.

artículo científico publicado en 2001

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome.

artículo científico publicado en 2000

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

artículo científico publicado en 1995

Lista de obras de Julie McGaughran

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

A multidisciplinary renal genetics clinic improves patient diagnosis

A protocol for the identification and validation of novel genetic causes of kidney disease

A rare case of a de novo dup(19q) associated with a mild phenotype.

A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: Confirmation of the Dinno syndrome

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

A severe case of oculo-ectodermal syndrome?

Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21

Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.

Audiological abnormalities in the Klippel-Feil syndrome

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: insights from cardiac magnetic resonance in clinical screening: Camuglia MYBPC3 gene mutation and MRI.

Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman.

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand

Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation

Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association.

Craniofrontonasal syndrome and diaphragmatic hernia

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia

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

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Establishment of an Australian National Genetic Heart Disease Registry.

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Factors influencing uptake of familial long QT syndrome genetic testing

Fanconi anemia and primary cataracts: first case

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Further delineation of the KAT6B molecular and phenotypic spectrum

Geleophysic dysplasia: A report of three affected boys—prenatal ultrasound does not detect recurrence

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Health status of cardiac genetic disease patients and their at-risk relatives

Hereditary pancreatitis in a family of Aboriginal descent

Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study.

Improving identification of lynch syndrome patients: a comparison of research data with clinical records

Interstitial deletion of 3p22.2-p24.2: the first reported case

KBG syndrome: An Australian experience.

Klippel-Feil anomaly and neural tube defects

Klippel-Feil anomaly in Fanconi anemia

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nasal encephalocele in a child with mosaic trisomy 14

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion

Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy

Positional cloning of a gene involved in hereditary multiple exostoses

Prenatal diagnosis of Smith-Lemli-Optiz syndrome

Prenatal diagnosis of mosaic trisomy 20 in New Zealand.

Prenatal diagnosis of partial tetrasomy 14: a case study.

Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion.

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

Referral of Queensland women with endometrial cancer to genetic services.

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome.

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The future of clinical genetics.

Toriello-Carey syndrome: case report with additional findings.

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome.

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).