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Clinical Genetics, ISSN 0009-9163, 07/2016, Volume 90, Issue 1, pp. 55 - 62
Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome ( JPS ) and hereditary hemorrhagic telangiectasia ( HHT ):... 
juvenile polyposis syndrome | melena | Smad4‐related juvenile polyposis | Osler–Rendu disease | hereditary hemorrhagic telangiectasia | Smad4 protein | epistaxis | Epistaxis | Melena | Juvenile polyposis syndrome | Osler-Rendu disease | Hereditary hemorrhagic telangiectasia | Smad4-related juvenile polyposis | MANAGEMENT | RISK | PULMONARY ARTERIOVENOUS-MALFORMATIONS | PREVALENCE | AORTOPATHY | COLORECTAL-CANCER | GENETICS & HEREDITY | UPDATE | BMPR1A | Humans | Middle Aged | Male | Neoplastic Syndromes, Hereditary - surgery | Intestinal Polyposis - diagnosis | Telangiectasia, Hereditary Hemorrhagic - genetics | Aorta - metabolism | Intestinal Polyposis - congenital | Telangiectasia, Hereditary Hemorrhagic - diagnosis | Telangiectasia, Hereditary Hemorrhagic - surgery | Smad4 Protein - genetics | Adult | Female | Registries | Neoplastic Syndromes, Hereditary - genetics | Retrospective Studies | Telangiectasia, Hereditary Hemorrhagic - complications | Gene Expression | Intestinal Polyposis - genetics | Neoplastic Syndromes, Hereditary - diagnosis | Aorta - pathology | Phenotype | Intestinal Polyposis - complications | Adolescent | Denmark | Neoplastic Syndromes, Hereditary - complications | Heterozygote | Aged | Mutation | Intestinal Polyposis - surgery | Genetic research | Genetic aspects | Genotype & phenotype | Genetic disorders | Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2016, Volume 90, Issue 1, pp. 55 - 62
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104163 - e104163
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a... 
CHROMOSOME | POPULATION | MENTAL-RETARDATION SYNDROME | MULTIDISCIPLINARY SCIENCES | BUPHTHALMOS | LTBP2 | DIFFERENTIATION | HYPOGONADISM | PRIMARY CONGENITAL GLAUCOMA | GENOME-WIDE ASSOCIATION | CUL4B GENE | Corneal Diseases - diagnostic imaging | Megalencephaly - diagnostic imaging | Humans | Middle Aged | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Ultrasonography | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Cerebral Palsy - diagnostic imaging | Megalencephaly - genetics | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Eye Diseases, Hereditary - diagnostic imaging | Muscle Hypotonia - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Mutation - genetics | Glaucoma - congenital | Nerve Tissue Proteins - genetics | Epilepsy - complications | Eye Diseases, Hereditary - genetics | Exome - genetics | Phenotype | Pedigree | Adolescent | Family | Glaucoma - genetics | Cerebral Palsy - genetics | Corneal Pachymetry | Glaucoma | Phenotypes | Cornea | Intellectual disabilities | Health risks | Genomes | Single-nucleotide polymorphism | Epidemiology | Loci | Eye | Proteins | Missense mutation | Etiology | Diagnostic software | Genetics | Diagnostic systems | Mutation | Bioinformatics | Chromosomes | Polymorphism | Index Medicus
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 03/2018, Volume 61, Issue 3, pp. 168 - 172
Duplications and deletions of Xq26-27 including (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM )... 
Coloboma | SOX3 | Facial dysmorphology | Hypopituitarism | Microphthalmia | MENTAL-RETARDATION | XQ26-Q27 | X-LINKED HYPOPITUITARISM | DELETION | GENES | GENETICS & HEREDITY | DUPLICATION | GROWTH-HORMONE DEFICIENCY | DOSAGE | Index Medicus
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2012, Volume 55, Issue 10, pp. 564 - 567
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2019, Volume 126, Issue 4, pp. 397 - 405
Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to... 
Organic acidurias | Branched-chain amino acids | Body height | Urea cycle disorders | L-arginine | Dietary and supplemental treatment
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2019
Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies... 
L-citrulline and L-arginine | urea-cycle disorders | branched-chain amino acids | organic acidurias | amino acid mixtures | dietary and supplemental treatment
Journal Article