Lista de obras - Lynne M Bird - Dominio Público Uruguay

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations ⬇️

artículo científico publicado el 1 de septiembre de 2010

A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities

artículo científico publicado en 2007

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

artículo científico publicado en 2011

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

artículo científico

Anencephaly with holoprosencephalic facies due to ring chromosome 18.

artículo científico publicado en 1997

Angelman Syndrome.

artículo científico publicado en 2015

Angelman syndrome: Current and emerging therapies in 2016.

artículo científico publicado en 2016

Angelman syndrome: Mutations influence features in early childhood

Angelman syndrome: review of clinical and molecular aspects

artículo científico publicado en 2014

Anterior cervical hypertrichosis: a dominantly inherited isolated defect.

artículo científico publicado en 1995

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea

artículo científico publicado en 2010

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief n

scientific article published on 01 January 1999

Choroid plexus cysts in the mid-trimester fetus--practical application suggests superiority of an individualized risk method of counseling for trisomy 18.

artículo científico publicado en 2002

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

artículo científico publicado en 2003

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

artículo científico publicado en 2017

Cortical dysgenesis and 22q11 deletion

artículo científico publicado en 2001

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.

artículo científico publicado en 2017

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

artículo científico publicado en 2010

Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.

artículo científico publicado en 2017

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

artículo científico publicado en 2017

Expanding the phenotype of mosaic trisomy 20

artículo científico publicado en 2008

Femoral facial syndrome: a case report with coexistent hydrocephaly.

artículo científico publicado en 2008

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

artículo científico publicado en 1998

Global developmental delay in a 10-month-old infant boy.

artículo científico publicado en 2010

Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome.

artículo científico publicado en 1996

Growth charts for 22q11 deletion syndrome

scientific article published on 06 August 2012

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

scientific article published on 14 May 2019

Hoffman syndrome: New patients, new insights

scientific article published on 10 December 2010

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations

artículo científico publicado en 2007

If not Angelman, what is it? A review of Angelman-like syndromes

scientific article published on 01 April 2014

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype

scientific article published on 01 March 2005

Marfanoid habitus with abnormal situs.

artículo científico publicado en 2004

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

artículo científico publicado en 2011

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

scientific article published on 01 January 2005

Natural history of prenatally diagnosed 46,X,isodicentric Y.

artículo científico publicado en 2006

Neonatal phenotype in Kabuki syndrome

artículo científico publicado en 2005

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

artículo científico publicado en 2007

Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome

article

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

artículo científico publicado en 2005

Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome

artículo científico publicado en 2013

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome

artículo científico publicado en 2013

Respiratory compromise after MgSO4 therapy for preterm labor in a woman with myotonic dystrophy: a case report

artículo científico publicado en 2008

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

artículo científico publicado en 2001

Sjögren-Larsson syndrome: a case report and literature review.

artículo científico publicado en 2006

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

artículo científico publicado en 2015

The effects of aminophylline and nifedipine on contractility of isolated pregnant human myometrium

artículo científico publicado en 1987

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection

artículo científico publicado en 2015

Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation

artículo científico publicado en 1995

Treatment of genetic disorders-A vision coming into focus

artículo científico publicado en 2016

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

artículo científico publicado en 2015

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

artículo científico publicado en 2015

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

artículo científico publicado en 2011

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

artículo científico publicado en 2011

Vertically transmitted hypoplasia of the abdominal wall musculature

scientific article published on 01 January 2004

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

artículo científico publicado en 2017

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

artículo científico publicado en 2013

X-linked situs abnormalities result from mutations in ZIC3 ⬇️

artículo científico publicado el 1 de noviembre de 1997

Lista de obras de Lynne M Bird

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations ⬇️

A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Anencephaly with holoprosencephalic facies due to ring chromosome 18.

Angelman Syndrome.

Angelman syndrome: Current and emerging therapies in 2016.

Angelman syndrome: Mutations influence features in early childhood

Angelman syndrome: review of clinical and molecular aspects

Anterior cervical hypertrichosis: a dominantly inherited isolated defect.

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief n

Choroid plexus cysts in the mid-trimester fetus--practical application suggests superiority of an individualized risk method of counseling for trisomy 18.

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Cortical dysgenesis and 22q11 deletion

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Expanding the phenotype of mosaic trisomy 20

Femoral facial syndrome: a case report with coexistent hydrocephaly.

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

Global developmental delay in a 10-month-old infant boy.

Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome.

Growth charts for 22q11 deletion syndrome

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

Hoffman syndrome: New patients, new insights

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations

If not Angelman, what is it? A review of Angelman-like syndromes

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype

Marfanoid habitus with abnormal situs.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

Natural history of prenatally diagnosed 46,X,isodicentric Y.

Neonatal phenotype in Kabuki syndrome

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome

Respiratory compromise after MgSO4 therapy for preterm labor in a woman with myotonic dystrophy: a case report

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Sjögren-Larsson syndrome: a case report and literature review.

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

The effects of aminophylline and nifedipine on contractility of isolated pregnant human myometrium

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection

Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation

Treatment of genetic disorders-A vision coming into focus

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

Vertically transmitted hypoplasia of the abdominal wall musculature

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

X-linked situs abnormalities result from mutations in ZIC3 ⬇️