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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.161-169

2012

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Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

European journal of pediatrics, 2005-08, Vol.164 (8), p.501-508

2005

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Clinical phenotype of lathosterolosis

American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2371-2381

2007

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Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

The Journal of pediatrics, 2007-03, Vol.150 (3), p.300-305.e1

2007

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Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

American journal of medical genetics, 2005-01, Vol.132A (2), p.144-151

2005

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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

Neurology, 2009-09, Vol.73 (12), p.962-969

2009

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The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

American journal of medical genetics. Part A, 2011-03, Vol.155A (3), p.540-547

2011

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The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

Genomics (San Diego, Calif.), 1998-04, Vol.49 (2), p.230-236

1998

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Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

American journal of medical genetics. Part A, 2011-07, Vol.155 (7), p.1697-1705

2011

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SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Nature genetics, 1999-03, Vol.21 (3), p.297-301

1999

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Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

Human molecular genetics, 1992-07, Vol.1 (4), p.221-227

1992

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Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA ( NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

American journal of human genetics, 1999-06, Vol.64 (6), p.1570-1579

1999

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Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2882-2885

2010

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The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

American journal of human genetics, 1995-06, Vol.56 (6), p.1324-1333

1995

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No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Annals of neurology, 2002-08, Vol.52 (2), p.224-227

2002

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Brain damage in glycogen storage disease type I

The Journal of pediatrics, 2004-05, Vol.144 (5), p.637-642

2004

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Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.327-329

2008

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Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia

Thrombosis and haemostasis, 2000-10, Vol.84 (4), p.576-582

2000

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Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

American journal of human genetics, 2000-01, Vol.66 (1), p.92-99

2000

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Thermolabile methylenetetrahydrofolate reductase, homocysteine, and cardiovascular disease risk: the European Concerted Action Project

The American journal of clinical nutrition, 2003, Vol.77 (1), p.63-70

2003

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Abnormally high thromboxane biosynthesis in homozygous homocystinuria : evidence for platelet involvement and probucol-sensitive mechanism

The Journal of clinical investigation, 1993-09, Vol.92 (3), p.1400-1406

1993

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Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder

Neuropediatrics, 2000-02, Vol.31 (1), p.39-41

2000

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Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes

American journal of human genetics, 2000-03, Vol.66 (3), p.841-847

2000

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Pulmonary Manifestations of Gaucher Disease . An Increased Risk for L444P Homozygotes?

American journal of respiratory and critical care medicine, 1998-03, Vol.157 (3), p.985-989

1998

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Molecular and Biochemical Analysis of Protective Protein/Cathepsin A Mutations: Correlation with Clinical Severity in Galactosialidosis

Human molecular genetics, 1996-12, Vol.5 (12), p.1977-1987

1996

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

Clinical phenotype of lathosterolosis

Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA ( NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly

The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Brain damage in glycogen storage disease type I

Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman

Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Thermolabile methylenetetrahydrofolate reductase, homocysteine, and cardiovascular disease risk: the European Concerted Action Project

Abnormally high thromboxane biosynthesis in homozygous homocystinuria : evidence for platelet involvement and probucol-sensitive mechanism

Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder

Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes

Pulmonary Manifestations of Gaucher Disease . An Increased Risk for L444P Homozygotes?

Molecular and Biochemical Analysis of Protective Protein/Cathepsin A Mutations: Correlation with Clinical Severity in Galactosialidosis

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