Frances A Flinter | Guy's and St Thomas' NHS Foundation Trust (original) (raw)

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Papers by Frances A Flinter

Research paper thumbnail of Poster Viewing Session - Quality and Safety of Art Therapies

Research paper thumbnail of Familial isolated primary hyperparathyroidism due to germline multiple endocrine neoplasia Type 1 (MEN1) mutations

22nd Joint Meeting of the British Endocrine Societies, Mar 1, 2003

Research paper thumbnail of The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Service Email Alerting click here. top right corner of the article or Receive free email alerts w... more Service Email Alerting click here. top right corner of the article or Receive free email alerts when new articles cite this article-sign up in the box at the http://genome.cshlp.org/subscriptions

Research paper thumbnail of Towards a comprehensive mutation screening strategy for Alport syndrome

Research paper thumbnail of Antenatal diagnosis and pre-implantation genetic testing

Oxford University Press eBooks, May 24, 2018

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of... more Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

Research paper thumbnail of Prenatal diagnosis

Research paper thumbnail of Alport's syndrome. A clinical and genetic study

Research paper thumbnail of Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

Clinical Dysmorphology, Jul 1, 2001

We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagno... more We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to Ehlers-Danlos syndrome type VI, but with no evidence of lysyl hydroxylase de®ciency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance.

Research paper thumbnail of Clinical and counselling implications of PGD for Huntington's disease in the UK

Research paper thumbnail of Medical genetics: advances in brief: Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence

Journal of Medical Genetics, Mar 1, 1996

Research paper thumbnail of Autosomal Dominant Polycystic Kidney Disease

Journal of Medical Genetics, Jul 1, 1996

Book reviews volume). Again random spores can be used to save the researcher from tetrad dissecti... more Book reviews volume). Again random spores can be used to save the researcher from tetrad dissection. Perhaps an early step in these more difficult protocols should be "Find yourself a yeast geneticist" which would save a great deal of time and effort for the researcher. Fortunately this is not generally a problem as most yeast geneticists would be willing to help.

Research paper thumbnail of Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

American journal of human genetics, Jan 2, 2017

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded prote... more Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARHGEF18 in three such individuals. ARHGEF18 encodes ARHGEF18, a guanine nucleotide exchange factor that activates RHOA, a small GTPase protein that is a key component of tight junctions and adherens junctions. This biological pathway is known to be important for retinal development and function, as mutation of CRB1, encoding another component, causes retinal dystrophy. The retinal structure in individuals with ARHGEF18 mutations resembled that seen in subjects with CRB1 mutations. Five mutations were found on six alleles in the three individuals: c.808A>G (p.Thr270Ala), c.1617+5...

Research paper thumbnail of Novel Stra6 Null Mutations In The Original Patient With Matthew-wood Syndrome

Investigative Ophthalmology & Visual Science, Mar 26, 2012

Research paper thumbnail of Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

Journal of Medical Genetics, Dec 1, 1997

Medical genetics: advances in brief Identification of mutations in the duplicated region of the p... more Medical genetics: advances in brief Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

Research paper thumbnail of Medical genetics: advances in brief: Prenatal genetic counselling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors

Journal of Medical Genetics, Jul 1, 1995

Research paper thumbnail of Antenatal diagnosis and pre-implantation genetic testing

Oxford University Press eBooks, Oct 1, 2015

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of... more Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

Research paper thumbnail of Medical genetics: advances in brief: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions

Journal of Medical Genetics, Oct 1, 1995

Research paper thumbnail of The Inheritance of Alport's and Related Syndromes

Nephrology Dialysis Transplantation, 1990

Research paper thumbnail of Medical genetics: advances in brief: Novel molecular variants of the Na-K-2C1 cotransporter gene are responsible for antenatal Bartter syndrome

Journal of Medical Genetics, Nov 1, 1998

Research paper thumbnail of Medical genetics: advances in brief: Application of carrier testing to genetic counselling for X-linked agammaglobulinemla

Journal of Medical Genetics, Apr 1, 1994

Bruton X linked agammaglobulinaemia (XLA) is caused by a disorder of I lymphocyte differentiation... more Bruton X linked agammaglobulinaemia (XLA) is caused by a disorder of I lymphocyte differentiation, which leads to recurrent bacterial infections from infancy. Female carriers are asymptomatic, and have normal numbers of mature B cells in their peripheral circulation, but they show a characteristic B cell lineage specific skewing of the pattern of X inactivation. Allen et al report patterns of X inactivation at the human androgen receptor (HAR) locus in 58 women from 22

Research paper thumbnail of Poster Viewing Session - Quality and Safety of Art Therapies

Research paper thumbnail of Familial isolated primary hyperparathyroidism due to germline multiple endocrine neoplasia Type 1 (MEN1) mutations

22nd Joint Meeting of the British Endocrine Societies, Mar 1, 2003

Research paper thumbnail of The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Service Email Alerting click here. top right corner of the article or Receive free email alerts w... more Service Email Alerting click here. top right corner of the article or Receive free email alerts when new articles cite this article-sign up in the box at the http://genome.cshlp.org/subscriptions

Research paper thumbnail of Towards a comprehensive mutation screening strategy for Alport syndrome

Research paper thumbnail of Antenatal diagnosis and pre-implantation genetic testing

Oxford University Press eBooks, May 24, 2018

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of... more Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

Research paper thumbnail of Prenatal diagnosis

Research paper thumbnail of Alport's syndrome. A clinical and genetic study

Research paper thumbnail of Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

Clinical Dysmorphology, Jul 1, 2001

We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagno... more We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to Ehlers-Danlos syndrome type VI, but with no evidence of lysyl hydroxylase de®ciency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance.

Research paper thumbnail of Clinical and counselling implications of PGD for Huntington's disease in the UK

Research paper thumbnail of Medical genetics: advances in brief: Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence

Journal of Medical Genetics, Mar 1, 1996

Research paper thumbnail of Autosomal Dominant Polycystic Kidney Disease

Journal of Medical Genetics, Jul 1, 1996

Book reviews volume). Again random spores can be used to save the researcher from tetrad dissecti... more Book reviews volume). Again random spores can be used to save the researcher from tetrad dissection. Perhaps an early step in these more difficult protocols should be "Find yourself a yeast geneticist" which would save a great deal of time and effort for the researcher. Fortunately this is not generally a problem as most yeast geneticists would be willing to help.

Research paper thumbnail of Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

American journal of human genetics, Jan 2, 2017

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded prote... more Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARHGEF18 in three such individuals. ARHGEF18 encodes ARHGEF18, a guanine nucleotide exchange factor that activates RHOA, a small GTPase protein that is a key component of tight junctions and adherens junctions. This biological pathway is known to be important for retinal development and function, as mutation of CRB1, encoding another component, causes retinal dystrophy. The retinal structure in individuals with ARHGEF18 mutations resembled that seen in subjects with CRB1 mutations. Five mutations were found on six alleles in the three individuals: c.808A>G (p.Thr270Ala), c.1617+5...

Research paper thumbnail of Novel Stra6 Null Mutations In The Original Patient With Matthew-wood Syndrome

Investigative Ophthalmology & Visual Science, Mar 26, 2012

Research paper thumbnail of Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

Journal of Medical Genetics, Dec 1, 1997

Medical genetics: advances in brief Identification of mutations in the duplicated region of the p... more Medical genetics: advances in brief Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

Research paper thumbnail of Medical genetics: advances in brief: Prenatal genetic counselling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors

Journal of Medical Genetics, Jul 1, 1995

Research paper thumbnail of Antenatal diagnosis and pre-implantation genetic testing

Oxford University Press eBooks, Oct 1, 2015

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of... more Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

Research paper thumbnail of Medical genetics: advances in brief: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions

Journal of Medical Genetics, Oct 1, 1995

Research paper thumbnail of The Inheritance of Alport's and Related Syndromes

Nephrology Dialysis Transplantation, 1990

Research paper thumbnail of Medical genetics: advances in brief: Novel molecular variants of the Na-K-2C1 cotransporter gene are responsible for antenatal Bartter syndrome

Journal of Medical Genetics, Nov 1, 1998

Research paper thumbnail of Medical genetics: advances in brief: Application of carrier testing to genetic counselling for X-linked agammaglobulinemla

Journal of Medical Genetics, Apr 1, 1994

Bruton X linked agammaglobulinaemia (XLA) is caused by a disorder of I lymphocyte differentiation... more Bruton X linked agammaglobulinaemia (XLA) is caused by a disorder of I lymphocyte differentiation, which leads to recurrent bacterial infections from infancy. Female carriers are asymptomatic, and have normal numbers of mature B cells in their peripheral circulation, but they show a characteristic B cell lineage specific skewing of the pattern of X inactivation. Allen et al report patterns of X inactivation at the human androgen receptor (HAR) locus in 58 women from 22