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Adamts-1 Is Essential for the Development and Function of the Urogenital System

Biology of reproduction, 2004-04, Vol.70 (4), p.1096-1105

2004

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Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

Neuroscience, 2009-12, Vol.164 (2), p.578-587

2009

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Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome

Journal of thrombosis and haemostasis, 2011-06, Vol.9 (6), p.1225-1235

2011

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Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

Clinical genetics, 2011-12, Vol.80 (6), p.550-557

2011

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Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci

Neuromuscular disorders : NMD, 2007-01, Vol.17 (1), p.6-12

2007

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Neonatal calyceal dilation and renal fibrosis resulting from loss of Adamts-1 in mouse kidney is due to a developmental dysgenesis

Nephrology, dialysis, transplantation, 2005-02, Vol.20 (2), p.419-423

2005

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CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE

Genetic counseling, 2015, Vol.26 (2), p.187

2015

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P40 Description of a Brazilian case of atelosteogenesis II: from prenatal to preimplantation diagnosis

Reproductive biomedicine online, 2012-05, Vol.24, p.S62-S62

2012

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P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S191-S192

2019

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Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins

Molecular endocrinology (Baltimore, Md.), 1998-08, Vol.12 (8), p.1112-1119

1998

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Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

Human genetics, 1999-11, Vol.105 (5), p.489-495

1999

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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

Molecular endocrinology (Baltimore, Md.), 1998-08, Vol.12 (8), p.1112-1119

1998

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Mutation analyses of North American APS-1 patients

Human mutation, 1999, Vol.13 (1), p.69-74

1999

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Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3

Advances in oto-rhino-laryngology, 2000, Vol.56, p.158-163

2000

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Isolation and characterization of the mouse Aire gene

Biochemical and biophysical research communications, 1999-02, Vol.255 (2), p.483-490

1999

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Adamts-1 is Essential for the Development and Function of the Urogenital System

Biology of reproduction, 2004-04, Vol.70 (4), p.1096-1105

2004

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Cloning of a Human RNA Editing Deaminase (ADARB1) of Glutamate Receptors That Maps to Chromosome 21q22.3

Genomics (San Diego, Calif.), 1997-04, Vol.41 (2), p.210-217

1997

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Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15

Human genetics, 1997-09, Vol.100 (3-4), p.398-400

1997

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Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

Human genetics, 1999-11, Vol.105 (5), p.489-495

1999

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ADAMTS‐1–Knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivo

Arthritis and rheumatism, 2005-05, Vol.52 (5), p.1461-1472

2005

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Pre-frail older adults show improved cognition with StayFitLonger computerized home–based training: a randomized controlled trial

GeroScience, 2023-04, Vol.45 (2), p.811-822

2023

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Rationale and protocol of the StayFitLonger study: a multicentre trial to measure efficacy and adherence of a home-based computerised multidomain intervention in healthy older adults

BMC geriatrics, 2020-08, Vol.20 (1), p.315-315, Article 315

2020

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Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Arthritis & rheumatology (Hoboken, N.J.), 2016-09, Vol.68 (9), p.2323-2327

2016

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Evaluation of Modeled Diurnal Warming Estimates for Application to Producing Sea Surface Temperature Analyses

Earth and space science (Hoboken, N.J.), 2024-09, Vol.11 (9)

2024

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Correction to: Pre-frail older adults show improved cognition with StayFitLonger computerized home–based training: a randomized controlled trial

GeroScience, 2023-07, Vol.45 (5), p.3099-3100

2023

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Adamts-1 Is Essential for the Development and Function of the Urogenital System

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci

Neonatal calyceal dilation and renal fibrosis resulting from loss of Adamts-1 in mouse kidney is due to a developmental dysgenesis

CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE

P40 Description of a Brazilian case of atelosteogenesis II: from prenatal to preimplantation diagnosis

P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation

Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins

Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

Mutation analyses of North American APS-1 patients

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3

Isolation and characterization of the mouse Aire gene

Adamts-1 is Essential for the Development and Function of the Urogenital System

Cloning of a Human RNA Editing Deaminase (ADARB1) of Glutamate Receptors That Maps to Chromosome 21q22.3

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15

Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

ADAMTS‐1–Knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivo

Pre-frail older adults show improved cognition with StayFitLonger computerized home–based training: a randomized controlled trial

Rationale and protocol of the StayFitLonger study: a multicentre trial to measure efficacy and adherence of a home-based computerised multidomain intervention in healthy older adults

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Evaluation of Modeled Diurnal Warming Estimates for Application to Producing Sea Surface Temperature Analyses

Correction to: Pre-frail older adults show improved cognition with StayFitLonger computerized home–based training: a randomized controlled trial

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