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Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101084-101084, Article 101084

2024

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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1661-1677

2009

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Chromosome painting in the manatee supports Afrotheria and Paenungulata

BMC evolutionary biology, 2007-01, Vol.7 (1), p.6, Article 6

2007

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Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria

Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.108114-108114, Article 108114

2024

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Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.847-856

2021

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Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals

American journal of medical genetics, 2004-01, Vol.124A (2), p.158-164

2004

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Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

American journal of human genetics, 2005-04, Vol.76 (4), p.663-671

2005

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A pathogenic role for germline PTEN variants which accumulate into the nucleus

European journal of human genetics : EJHG, 2018-08, Vol.26 (8), p.1180-1187

2018

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Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion

Journal of AAPOS, 2021-10, Vol.25 (5), p.309-311

2021

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

American journal of human genetics, 2008-05, Vol.82 (5), p.1171-1177

2008

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Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem

Pediatric research, 2018-04, Vol.83 (4), p.889-896

2018

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Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.945-950

2018

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Genetic insights into familial cancers – update and recent discoveries

Cancer Letters, 2002-07, Vol.181 (2), p.125-164

2002

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

American journal of human genetics, 2009-02, Vol.84 (2), p.301-301

2009

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Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.262-265

2009

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Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

International journal of pediatric endocrinology, 2012-07, Vol.2012 (1), p.21-21, Article 21

2012

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A molecular diagnosis of hyperparathyroidism—Jaw tumor syndrome in an adolescent with recurrent kidney stones

The Journal of pediatrics, 2004-10, Vol.145 (4), p.567-567

2004

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Facial dysmorphism and digit anomalies in three siblings with severe developmental delay

Clinical dysmorphology, 2011-04, Vol.20 (2), p.92-94

2011

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Testing Strategy for Inborn Errors of Metabolism in the Neonate

Neoreviews (Elk Grove Village, Ill.), 2008-07, Vol.9 (7), p.e291-e298

2008

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A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.917-924

1992

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Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader‐Willi‐like phenotype

American journal of medical genetics, 2003-01, Vol.116A (2), p.176-178

2003

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Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

The Lancet (British edition), 2024-10, Vol.404 (10460), p.1333-1345

2024

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Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Genomics (San Diego, Calif.), 1999-05, Vol.58 (1), p.34-40

1999

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Angelman Syndrome: Clinical Profile

Journal of child neurology, 1992-07, Vol.7 (3), p.270-280

1992

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Diagnosis of an early precursor-B-ALL presenting with hypereosinophilia using FISH on immunomagnetically selected CD19+ cells

Clinical advances in hematology & oncology, 2005-01, Vol.3 (1), p.62

2005

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Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Chromosome painting in the manatee supports Afrotheria and Paenungulata

Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals

Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

A pathogenic role for germline PTEN variants which accumulate into the nucleus

Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

Genetic insights into familial cancers – update and recent discoveries

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

A molecular diagnosis of hyperparathyroidism—Jaw tumor syndrome in an adolescent with recurrent kidney stones

Facial dysmorphism and digit anomalies in three siblings with severe developmental delay

Testing Strategy for Inborn Errors of Metabolism in the Neonate

A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader‐Willi‐like phenotype

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Angelman Syndrome: Clinical Profile

Diagnosis of an early precursor-B-ALL presenting with hypereosinophilia using FISH on immunomagnetically selected CD19+ cells

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