Journal of Child Neurology, ISSN 0883-0738, 5/2017, Volume 32, Issue 6, pp. 543 - 549
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at...
microcephaly | seizures | spasticity | Neu-Laxova syndrome | PGDH | INTELLECTUAL DISABILITY | DISORDERS | PEDIATRICS | NEU-LAXOVA-SYNDROME | 3-PHOSPHOGLYCERATE | CHILD | CLINICAL NEUROLOGY | Limb Deformities, Congenital - genetics | Abnormalities, Multiple - etiology | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Seizures - genetics | Ichthyosis - etiology | Humans | Brain Diseases - genetics | Carbohydrate Metabolism, Inborn Errors - complications | Child, Preschool | Limb Deformities, Congenital - therapy | Family Health | Fetal Growth Retardation - genetics | Infant | Male | Psychomotor Disorders - complications | Serine - biosynthesis | Carbohydrate Metabolism, Inborn Errors - genetics | Seizures - complications | Seizures - diagnostic imaging | Young Adult | Psychomotor Disorders - genetics | Ichthyosis - diagnostic imaging | Brain Diseases - therapy | Fetal Growth Retardation - etiology | Ichthyosis - genetics | Female | Microcephaly - therapy | Brain Diseases - etiology | Carbohydrate Metabolism, Inborn Errors - diagnostic imaging | Psychomotor Disorders - diagnostic imaging | Abnormalities, Multiple - genetics | Microcephaly - complications | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Mutation - genetics | Fetal Growth Retardation - therapy | Phosphoglycerate Dehydrogenase - genetics | Phenotype | Abnormalities, Multiple - therapy | Limb Deformities, Congenital - etiology | Adolescent | Limb Deformities, Congenital - diagnostic imaging | Microcephaly - etiology | Phosphoglycerate Dehydrogenase - deficiency | Ichthyosis - therapy
microcephaly | seizures | spasticity | Neu-Laxova syndrome | PGDH | INTELLECTUAL DISABILITY | DISORDERS | PEDIATRICS | NEU-LAXOVA-SYNDROME | 3-PHOSPHOGLYCERATE | CHILD | CLINICAL NEUROLOGY | Limb Deformities, Congenital - genetics | Abnormalities, Multiple - etiology | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Seizures - genetics | Ichthyosis - etiology | Humans | Brain Diseases - genetics | Carbohydrate Metabolism, Inborn Errors - complications | Child, Preschool | Limb Deformities, Congenital - therapy | Family Health | Fetal Growth Retardation - genetics | Infant | Male | Psychomotor Disorders - complications | Serine - biosynthesis | Carbohydrate Metabolism, Inborn Errors - genetics | Seizures - complications | Seizures - diagnostic imaging | Young Adult | Psychomotor Disorders - genetics | Ichthyosis - diagnostic imaging | Brain Diseases - therapy | Fetal Growth Retardation - etiology | Ichthyosis - genetics | Female | Microcephaly - therapy | Brain Diseases - etiology | Carbohydrate Metabolism, Inborn Errors - diagnostic imaging | Psychomotor Disorders - diagnostic imaging | Abnormalities, Multiple - genetics | Microcephaly - complications | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Mutation - genetics | Fetal Growth Retardation - therapy | Phosphoglycerate Dehydrogenase - genetics | Phenotype | Abnormalities, Multiple - therapy | Limb Deformities, Congenital - etiology | Adolescent | Limb Deformities, Congenital - diagnostic imaging | Microcephaly - etiology | Phosphoglycerate Dehydrogenase - deficiency | Ichthyosis - therapy
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2017, Volume 264, Issue 7, pp. 1334 - 1342
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal...
Lipid storage disease | Neurology | Neurosciences | Medicine & Public Health | NLSD | ABHD5 | Muscle MRI | Neuroradiology | PNPLA2 | ADIPOSE TRIGLYCERIDE LIPASE | ONSET POMPE DISEASE | INVOLVEMENT | PHENOTYPE | PATTERNS | CHANARIN-DORFMAN-SYNDROME | MYOPATHY | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | PNPLA2 GENE | Severity of Illness Index | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Adipose Tissue - diagnostic imaging | Lipid Metabolism, Inborn Errors - diagnostic imaging | Ichthyosiform Erythroderma, Congenital - diagnostic imaging | Magnetic Resonance Imaging | Muscle, Skeletal - diagnostic imaging | Adolescent | Lower Extremity | Adult | Female | Italy | Upper Extremity | Aged | Muscular Diseases - diagnostic imaging | Cohort Studies | Care and treatment | Usage | Lipid metabolism disorders | Diagnosis | Magnetic resonance imaging | Limbs | Lipids | Lipid metabolism | Skeletal muscle | Leg | Myopathy | Ichthyosis | Original Communication
Lipid storage disease | Neurology | Neurosciences | Medicine & Public Health | NLSD | ABHD5 | Muscle MRI | Neuroradiology | PNPLA2 | ADIPOSE TRIGLYCERIDE LIPASE | ONSET POMPE DISEASE | INVOLVEMENT | PHENOTYPE | PATTERNS | CHANARIN-DORFMAN-SYNDROME | MYOPATHY | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | PNPLA2 GENE | Severity of Illness Index | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Adipose Tissue - diagnostic imaging | Lipid Metabolism, Inborn Errors - diagnostic imaging | Ichthyosiform Erythroderma, Congenital - diagnostic imaging | Magnetic Resonance Imaging | Muscle, Skeletal - diagnostic imaging | Adolescent | Lower Extremity | Adult | Female | Italy | Upper Extremity | Aged | Muscular Diseases - diagnostic imaging | Cohort Studies | Care and treatment | Usage | Lipid metabolism disorders | Diagnosis | Magnetic resonance imaging | Limbs | Lipids | Lipid metabolism | Skeletal muscle | Leg | Myopathy | Ichthyosis | Original Communication
Journal Article
Georgian medical news, ISSN 1512-0112, 02/2018, Issue Issue, pp. 61 - 64
The aim of this study was to study the macroscopic changes in the skin of patients with various forms of ichthyosis to improve and optimize treatment. A...
Severity of Illness Index | Humans | Middle Aged | Dermoscopy | Male | Ichthyosis - pathology | Algorithms | Ichthyosis - classification | Ichthyosis - diagnostic imaging | Adolescent | Skin - diagnostic imaging | Adult | Female | Child | Research Design | Skin - pathology
Severity of Illness Index | Humans | Middle Aged | Dermoscopy | Male | Ichthyosis - pathology | Algorithms | Ichthyosis - classification | Ichthyosis - diagnostic imaging | Adolescent | Skin - diagnostic imaging | Adult | Female | Child | Research Design | Skin - pathology
Journal Article
Journal of Ultrasound in Medicine, ISSN 0278-4297, 10/2011, Volume 30, Issue 10, pp. 1437 - 1439
ACOUSTICS | FETUS | HARLEQUIN ICHTHYOSIS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | LAMELLAR ICHTHYOSIS | PRENATAL-DIAGNOSIS | Nail Diseases - diagnostic imaging | Skin Neoplasms - diagnostic imaging | Nails - diagnostic imaging | Humans | Imaging, Three-Dimensional - methods | Male | Pregnancy | Ichthyosis - diagnostic imaging | Female | Ichthyosis, Lamellar - diagnostic imaging | Ultrasonography, Prenatal - methods | Foot Dermatoses - diagnostic imaging | Warts - diagnostic imaging | Ultrasonography - methods
Journal Article
Contact Lens & Anterior Eye, ISSN 1367-0484, 2017, Volume 41, Issue 2, pp. 154 - 156
Abstract Purpose To evaluate the dry eye findings and Meibomian gland dysfunction as demonstrated with meibography in patients with lamellar ichthyosis....
Ophthalmology | Meibography | Lamellar ichthyosis | Ocular surface | Dry eye | Meibomian gland dysfunction | OPHTHALMOLOGY | Slit Lamp | Diagnostic Imaging - instrumentation | Humans | Middle Aged | Male | Meibomian Glands - diagnostic imaging | Meibomian Glands - pathology | Young Adult | Eyelid Diseases - etiology | Dry Eye Syndromes - diagnostic imaging | Eyelid Diseases - diagnostic imaging | Staining and Labeling | Adolescent | Physical Examination | Adult | Female | Tears - physiology | Fluorescent Dyes - administration & dosage | Dry Eye Syndromes - etiology | Ichthyosis, Lamellar - complications | Eye | Care and treatment | Medical examination | Fluorescein | Eye diseases | College teachers | Ichthyosis
Ophthalmology | Meibography | Lamellar ichthyosis | Ocular surface | Dry eye | Meibomian gland dysfunction | OPHTHALMOLOGY | Slit Lamp | Diagnostic Imaging - instrumentation | Humans | Middle Aged | Male | Meibomian Glands - diagnostic imaging | Meibomian Glands - pathology | Young Adult | Eyelid Diseases - etiology | Dry Eye Syndromes - diagnostic imaging | Eyelid Diseases - diagnostic imaging | Staining and Labeling | Adolescent | Physical Examination | Adult | Female | Tears - physiology | Fluorescent Dyes - administration & dosage | Dry Eye Syndromes - etiology | Ichthyosis, Lamellar - complications | Eye | Care and treatment | Medical examination | Fluorescein | Eye diseases | College teachers | Ichthyosis
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, p. e49519
Imaging mass spectrometry (IMS) is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well...
PERFORMANCE LIQUID-CHROMATOGRAPHY | HIGH-SPATIAL-RESOLUTION | GLUCOSYLCERAMIDE | INSTRUMENTATION | EPIDERMAL PERMEABILITY BARRIER | MULTIDISCIPLINARY SCIENCES | DISEASE | STRATUM-CORNEUM CERAMIDES | PHOSPHATIDYLCHOLINES | SPHINGOMYELINS | LIPIDS | Ions - chemistry | Ceramides - metabolism | Lipid Metabolism, Inborn Errors - metabolism | Muscular Diseases - metabolism | Skin - metabolism | Humans | Lipid Metabolism, Inborn Errors - diagnosis | Molecular Imaging | Phosphatidylcholines - chemistry | Ions - metabolism | Phosphatidylcholines - metabolism | Muscular Diseases - diagnosis | Diagnostic Imaging | Skin - chemistry | Ichthyosiform Erythroderma, Congenital - metabolism | Lipids - chemistry | Animals | Ichthyosiform Erythroderma, Congenital - diagnosis | Mass Spectrometry | Mice | Phosphoric Monoester Hydrolases - metabolism | Skin - pathology | Phosphoric Monoester Hydrolases - chemistry | Metabolites | Spectrum analysis | Ceramides | Skin diseases | Skin | Permeability | Plant lipids | Drugs | Pathogenesis | Terrestrial environments | Lipids | Tissues | Water loss | Lasers | Imaging | Ceramide | Biomolecules | Stress concentration | Spectroscopy | Stratum corneum | Abnormalities | Excess water | Epidermis | Ions | Mass spectroscopy | Desorption | Metabolism | Ichthyosis | Storage diseases | Ionization | Diagnostic systems | Mass spectrometry
PERFORMANCE LIQUID-CHROMATOGRAPHY | HIGH-SPATIAL-RESOLUTION | GLUCOSYLCERAMIDE | INSTRUMENTATION | EPIDERMAL PERMEABILITY BARRIER | MULTIDISCIPLINARY SCIENCES | DISEASE | STRATUM-CORNEUM CERAMIDES | PHOSPHATIDYLCHOLINES | SPHINGOMYELINS | LIPIDS | Ions - chemistry | Ceramides - metabolism | Lipid Metabolism, Inborn Errors - metabolism | Muscular Diseases - metabolism | Skin - metabolism | Humans | Lipid Metabolism, Inborn Errors - diagnosis | Molecular Imaging | Phosphatidylcholines - chemistry | Ions - metabolism | Phosphatidylcholines - metabolism | Muscular Diseases - diagnosis | Diagnostic Imaging | Skin - chemistry | Ichthyosiform Erythroderma, Congenital - metabolism | Lipids - chemistry | Animals | Ichthyosiform Erythroderma, Congenital - diagnosis | Mass Spectrometry | Mice | Phosphoric Monoester Hydrolases - metabolism | Skin - pathology | Phosphoric Monoester Hydrolases - chemistry | Metabolites | Spectrum analysis | Ceramides | Skin diseases | Skin | Permeability | Plant lipids | Drugs | Pathogenesis | Terrestrial environments | Lipids | Tissues | Water loss | Lasers | Imaging | Ceramide | Biomolecules | Stress concentration | Spectroscopy | Stratum corneum | Abnormalities | Excess water | Epidermis | Ions | Mass spectroscopy | Desorption | Metabolism | Ichthyosis | Storage diseases | Ionization | Diagnostic systems | Mass spectrometry
Journal Article
Biological Chemistry, ISSN 1431-6730, 09/2016, Volume 397, Issue 9, pp. 815 - 826
Carcinogenesis is accompanied by increased protein and activity levels of extracellular cell-surface proteases that are capable of modifying the tumor...
protease inhibitors | type II transmembrane serine proteases | cell surface proteolysis | Cell surface proteolysis | SURFACE PROTEOLYTIC-ENZYMES | HUMAN ENDOMETRIAL CANCER | FACTOR ACTIVATOR INHIBITOR-1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | HEPATOCYTE GROWTH-FACTOR | AUTOSOMAL RECESSIVE ICHTHYOSIS | NEGATIVE BREAST-CANCER | EPITHELIAL-MESENCHYMAL TRANSITION | SQUAMOUS-CELL CARCINOMA | MEMBRANE-ASSOCIATED PROTEASE | TISSUE MICROARRAY ANALYSIS | Serine Proteases - metabolism | Cell Membrane - enzymology | Diagnostic Imaging | Animals | Humans | Neoplasms - enzymology | Neoplasms - diagnostic imaging | Neoplasms - pathology | Molecular Targeted Therapy - methods | Neoplasms - drug therapy | Physiological aspects | Care and treatment | Proteases | Methods | Cancer | Index Medicus
protease inhibitors | type II transmembrane serine proteases | cell surface proteolysis | Cell surface proteolysis | SURFACE PROTEOLYTIC-ENZYMES | HUMAN ENDOMETRIAL CANCER | FACTOR ACTIVATOR INHIBITOR-1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | HEPATOCYTE GROWTH-FACTOR | AUTOSOMAL RECESSIVE ICHTHYOSIS | NEGATIVE BREAST-CANCER | EPITHELIAL-MESENCHYMAL TRANSITION | SQUAMOUS-CELL CARCINOMA | MEMBRANE-ASSOCIATED PROTEASE | TISSUE MICROARRAY ANALYSIS | Serine Proteases - metabolism | Cell Membrane - enzymology | Diagnostic Imaging | Animals | Humans | Neoplasms - enzymology | Neoplasms - diagnostic imaging | Neoplasms - pathology | Molecular Targeted Therapy - methods | Neoplasms - drug therapy | Physiological aspects | Care and treatment | Proteases | Methods | Cancer | Index Medicus
Journal Article
The Journal of Dermatology, ISSN 0385-2407, 08/2016, Volume 43, Issue 8, pp. 937 - 939
Distinguishing Grover's disease from other papular dermatoses is often a troublesome task. According to two relatively recent case reports, dermoscopy may be...
inflammatory skin diseases | histology | Grover's disease | dermoscopy | inflammoscopy | PSORIASIS | DERMATOLOGY | Ichthyosis - pathology | Acantholysis - diagnostic imaging | Ichthyosis - classification | Ichthyosis - diagnostic imaging | Humans | Middle Aged | Acantholysis - pathology | Dermoscopy | Female | Male | Acantholysis - classification
inflammatory skin diseases | histology | Grover's disease | dermoscopy | inflammoscopy | PSORIASIS | DERMATOLOGY | Ichthyosis - pathology | Acantholysis - diagnostic imaging | Ichthyosis - classification | Ichthyosis - diagnostic imaging | Humans | Middle Aged | Acantholysis - pathology | Dermoscopy | Female | Male | Acantholysis - classification
Journal Article
Australasian Journal of Dermatology, ISSN 0004-8380, 02/2017, Volume 58, Issue 1, pp. 50 - 52
Grover's disease | transient acantholytic dermatosis | dermoscopy | DERMATOLOGY | Multiple Sclerosis - complications | Ichthyosis - pathology | Acantholysis - diagnostic imaging | Ichthyosis - complications | Ichthyosis - diagnostic imaging | Humans | Acantholysis - pathology | Adult | Dermoscopy | Female | Acantholysis - complications
Journal Article
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Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 04/2012, Volume 39, Issue 4, pp. 473 - 477
All cases of ichthyosis prematurity syndrome (IPS), registered at the National Center for Fetal Medicine in Trondheim, Norway between 1987 and 2010 were...
polyhydramnios | separation of fetal membranes | fetal ichthyosis | non‐visibility of fetal stomach | ichthyosis prematurity syndrome | non-visibility of fetal stomach | DIAGNOSIS | MANAGEMENT | CONGENITA TYPE-IV | CHORIOAMNIOTIC MEMBRANE SEPARATION | HARLEQUIN ICHTHYOSIS | OBSTETRICS & GYNECOLOGY | ACOUSTICS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Amnion - diagnostic imaging | Humans | Male | Infant, Premature, Diseases - mortality | Ichthyosis - embryology | Pregnancy | Amniotic Fluid | Ichthyosis - diagnostic imaging | Kidney - abnormalities | Infant, Premature, Diseases - diagnostic imaging | Norway - epidemiology | Aniridia | Adult | Chorion - diagnostic imaging | Female | Ultrasonography, Prenatal - methods | Ichthyosis - mortality | Infant, Premature, Diseases - embryology | Infant, Newborn | Pregnancy Outcome | Psychomotor Disorders | Pregnant women | Analysis | Ichthyosis
polyhydramnios | separation of fetal membranes | fetal ichthyosis | non‐visibility of fetal stomach | ichthyosis prematurity syndrome | non-visibility of fetal stomach | DIAGNOSIS | MANAGEMENT | CONGENITA TYPE-IV | CHORIOAMNIOTIC MEMBRANE SEPARATION | HARLEQUIN ICHTHYOSIS | OBSTETRICS & GYNECOLOGY | ACOUSTICS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Amnion - diagnostic imaging | Humans | Male | Infant, Premature, Diseases - mortality | Ichthyosis - embryology | Pregnancy | Amniotic Fluid | Ichthyosis - diagnostic imaging | Kidney - abnormalities | Infant, Premature, Diseases - diagnostic imaging | Norway - epidemiology | Aniridia | Adult | Chorion - diagnostic imaging | Female | Ultrasonography, Prenatal - methods | Ichthyosis - mortality | Infant, Premature, Diseases - embryology | Infant, Newborn | Pregnancy Outcome | Psychomotor Disorders | Pregnant women | Analysis | Ichthyosis
Journal Article
Annals of Otology, Rhinology & Laryngology, ISSN 0003-4894, 8/2016, Volume 125, Issue 8, pp. 627 - 633
Objectives: To quantify the barrier sterols and image the lipid structures in the matrix of acquired cholesteatoma and compare the distribution with that found...
CARS | cholesterol | cholesteatoma | epidermal barrier | HPTLC | MIDDLE-EAR CHOLESTEATOMA | OTORHINOLARYNGOLOGY | ICHTHYOSIS | SKIN BARRIER FUNCTION | PERMEABILITY BARRIER | STRATUM-CORNEUM LIPIDS | Cholesteatoma, Middle Ear - metabolism | Sterols - metabolism | Skin - metabolism | Humans | Lipid Metabolism | Lipids | Cholesteatoma, Middle Ear - pathology | Chromatography, High Pressure Liquid | Cholesterol - metabolism | Extracellular Space - metabolism | Extracellular Space - diagnostic imaging | Microscopy | Skin - diagnostic imaging | Spectrum Analysis, Raman | Skin - pathology | Cholesteatoma, Middle Ear - diagnostic imaging
CARS | cholesterol | cholesteatoma | epidermal barrier | HPTLC | MIDDLE-EAR CHOLESTEATOMA | OTORHINOLARYNGOLOGY | ICHTHYOSIS | SKIN BARRIER FUNCTION | PERMEABILITY BARRIER | STRATUM-CORNEUM LIPIDS | Cholesteatoma, Middle Ear - metabolism | Sterols - metabolism | Skin - metabolism | Humans | Lipid Metabolism | Lipids | Cholesteatoma, Middle Ear - pathology | Chromatography, High Pressure Liquid | Cholesterol - metabolism | Extracellular Space - metabolism | Extracellular Space - diagnostic imaging | Microscopy | Skin - diagnostic imaging | Spectrum Analysis, Raman | Skin - pathology | Cholesteatoma, Middle Ear - diagnostic imaging
Journal Article
ANNALES DE PATHOLOGIE, ISSN 0242-6498, 08/2016, Volume 36, Issue 4, pp. 235 - 244
Introduction. - The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth...
L-SERINE BIOSYNTHESIS | MILD FORM | Neu-Laxova syndrome | CONTRACTURES | TRIMESTER | ANOMALIES | Serine | PATHOLOGY | Faetopathology | Pregnancy abortion | FEMALE | Prenatal diagnosis | ENTITY | PHGDH | PRENATAL-DIAGNOSIS | MANIFESTATIONS | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Humans | Brain Diseases - genetics | Stillbirth | Fetal Growth Retardation - genetics | Male | Limb Deformities, Congenital - embryology | Abnormalities, Multiple - embryology | Genes, Lethal | Ichthyosis - pathology | Microcephaly - embryology | Brain Diseases - embryology | Ichthyosis - diagnostic imaging | Fetal Growth Retardation - etiology | Microcephaly - pathology | Fatal Outcome | Ichthyosis - genetics | Adult | Female | Abnormalities, Multiple - genetics | Infant, Newborn | Abortion, Eugenic | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Genes, Recessive | Gestational Age | Fetal Growth Retardation - pathology | Ichthyosis - embryology | Pregnancy | Phenotype | Brain Diseases - pathology | Ultrasonography, Prenatal | Limb Deformities, Congenital - diagnostic imaging | Consanguinity | Limb Deformities, Congenital - pathology
L-SERINE BIOSYNTHESIS | MILD FORM | Neu-Laxova syndrome | CONTRACTURES | TRIMESTER | ANOMALIES | Serine | PATHOLOGY | Faetopathology | Pregnancy abortion | FEMALE | Prenatal diagnosis | ENTITY | PHGDH | PRENATAL-DIAGNOSIS | MANIFESTATIONS | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Humans | Brain Diseases - genetics | Stillbirth | Fetal Growth Retardation - genetics | Male | Limb Deformities, Congenital - embryology | Abnormalities, Multiple - embryology | Genes, Lethal | Ichthyosis - pathology | Microcephaly - embryology | Brain Diseases - embryology | Ichthyosis - diagnostic imaging | Fetal Growth Retardation - etiology | Microcephaly - pathology | Fatal Outcome | Ichthyosis - genetics | Adult | Female | Abnormalities, Multiple - genetics | Infant, Newborn | Abortion, Eugenic | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Genes, Recessive | Gestational Age | Fetal Growth Retardation - pathology | Ichthyosis - embryology | Pregnancy | Phenotype | Brain Diseases - pathology | Ultrasonography, Prenatal | Limb Deformities, Congenital - diagnostic imaging | Consanguinity | Limb Deformities, Congenital - pathology
Journal Article
Taiwanese journal of obstetrics & gynecology, 06/2018, Volume 57, Issue 3, p. 452
Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12...
Humans | Abnormalities, Multiple - diagnostic imaging | Male | Fetal Diseases - diagnostic imaging | Fetal Diseases - genetics | Pregnancy | ATP-Binding Cassette Transporters - genetics | Ichthyosis, Lamellar - genetics | Ultrasonography, Prenatal | Adult | Female | Heterozygote | Ichthyosis, Lamellar - diagnostic imaging | Mutation | Abnormalities, Multiple - genetics
Humans | Abnormalities, Multiple - diagnostic imaging | Male | Fetal Diseases - diagnostic imaging | Fetal Diseases - genetics | Pregnancy | ATP-Binding Cassette Transporters - genetics | Ichthyosis, Lamellar - genetics | Ultrasonography, Prenatal | Adult | Female | Heterozygote | Ichthyosis, Lamellar - diagnostic imaging | Mutation | Abnormalities, Multiple - genetics
Journal Article
Rheumatology (United Kingdom), ISSN 1462-0324, 06/2013, Volume 52, Issue 6, p. 985
Back Pain - chemically induced | Ichthyosis, Lamellar - drug therapy | Humans | Middle Aged | Keratolytic Agents - adverse effects | Hyperostosis - diagnostic imaging | Hyperostosis - chemically induced | Hyperostosis - complications | Radiography | Back Pain - complications | Female | Ichthyosis, Lamellar - diagnostic imaging | Back Pain - diagnostic imaging | Ichthyosis, Lamellar - complications | Acitretin - adverse effects
Journal Article
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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 9, pp. 861 - 872
Highlights • Six individuals with mutations in STIM1 were identified, two of which are novel • Identified STIM1 mutations were in both EF-hand and Coiled Coil...
Neurology | York platelet syndrome | STIM1 | Tubular aggregate myopathy | Stormorken syndrome | Exome sequencing | Calcium - metabolism | Humans | Middle Aged | Family Health | Male | Myopathies, Structural, Congenital - genetics | Erythrocytes, Abnormal | Stromal Interaction Molecule 1 - genetics | Miosis - genetics | DNA Mutational Analysis | Ichthyosis - genetics | Adult | Female | Cell Culture Techniques | Neoplasm Proteins - genetics | NAD - metabolism | Blood Platelet Disorders - genetics | Genetic Association Studies | Muscle, Skeletal - ultrastructure | Models, Molecular | Spleen - abnormalities | Fibroblasts - pathology | Microscopy, Electron | Mutation - genetics | Dyslexia - genetics | Magnetic Resonance Imaging | Migraine Disorders - genetics | Muscle, Skeletal - diagnostic imaging | Muscle Fatigue - genetics | Muscle, Skeletal - pathology | Genetic research | Medicine, Experimental | Medical research | Genetic aspects | Mental illness
Neurology | York platelet syndrome | STIM1 | Tubular aggregate myopathy | Stormorken syndrome | Exome sequencing | Calcium - metabolism | Humans | Middle Aged | Family Health | Male | Myopathies, Structural, Congenital - genetics | Erythrocytes, Abnormal | Stromal Interaction Molecule 1 - genetics | Miosis - genetics | DNA Mutational Analysis | Ichthyosis - genetics | Adult | Female | Cell Culture Techniques | Neoplasm Proteins - genetics | NAD - metabolism | Blood Platelet Disorders - genetics | Genetic Association Studies | Muscle, Skeletal - ultrastructure | Models, Molecular | Spleen - abnormalities | Fibroblasts - pathology | Microscopy, Electron | Mutation - genetics | Dyslexia - genetics | Magnetic Resonance Imaging | Migraine Disorders - genetics | Muscle, Skeletal - diagnostic imaging | Muscle Fatigue - genetics | Muscle, Skeletal - pathology | Genetic research | Medicine, Experimental | Medical research | Genetic aspects | Mental illness
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Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 27, Issue 1, pp. 78 - 82
Highlights • Our patient had tubular aggregate myopathy and features of Stormorken syndrome. • Whole-body muscle magnetic resonance imaging revealed asplenia....
Neurology | STIM1 | Tubular aggregate myopathy | Stormorken syndrome | Asplenia | MIOSIS | CONSTITUTIVE ACTIVATION | ORAI1 | CHANNELS | NEUROSCIENCES | CLINICAL NEUROLOGY | Blood Platelet Disorders - genetics | Humans | Myopathies, Structural, Congenital - genetics | Mutation, Missense | Spleen - abnormalities | Dyslexia - genetics | Erythrocytes, Abnormal | Stromal Interaction Molecule 1 - genetics | Miosis - genetics | Migraine Disorders - genetics | Ichthyosis - genetics | Adult | Female | Muscle Fatigue - genetics | Neoplasm Proteins - genetics | Diagnostic imaging | Genetic research | Genetic aspects | Creatine | Anemia | Creatine kinase
Neurology | STIM1 | Tubular aggregate myopathy | Stormorken syndrome | Asplenia | MIOSIS | CONSTITUTIVE ACTIVATION | ORAI1 | CHANNELS | NEUROSCIENCES | CLINICAL NEUROLOGY | Blood Platelet Disorders - genetics | Humans | Myopathies, Structural, Congenital - genetics | Mutation, Missense | Spleen - abnormalities | Dyslexia - genetics | Erythrocytes, Abnormal | Stromal Interaction Molecule 1 - genetics | Miosis - genetics | Migraine Disorders - genetics | Ichthyosis - genetics | Adult | Female | Muscle Fatigue - genetics | Neoplasm Proteins - genetics | Diagnostic imaging | Genetic research | Genetic aspects | Creatine | Anemia | Creatine kinase
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 3/2010, Volume 29, Issue 2, pp. 108 - 119
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction, extreme microcephaly, marked edema with...
IUGR | ichthyosis | Neu-Laxova | Ichthyosis | PEDIATRICS | PATHOLOGY | PRENATAL-DIAGNOSIS | FEMALE | Humans | Central Nervous System - abnormalities | Abnormalities, Multiple - diagnostic imaging | Microcephaly - diagnostic imaging | Nervous System Malformations - diagnostic imaging | Stillbirth - genetics | Ectodermal Dysplasia - diagnostic imaging | Syndrome | Central Nervous System - diagnostic imaging | Craniofacial Abnormalities - diagnostic imaging | Pregnancy | Phenotype | Ichthyosis - diagnostic imaging | Ultrasonography | Female | Rare Diseases - diagnostic imaging | Consanguinity
IUGR | ichthyosis | Neu-Laxova | Ichthyosis | PEDIATRICS | PATHOLOGY | PRENATAL-DIAGNOSIS | FEMALE | Humans | Central Nervous System - abnormalities | Abnormalities, Multiple - diagnostic imaging | Microcephaly - diagnostic imaging | Nervous System Malformations - diagnostic imaging | Stillbirth - genetics | Ectodermal Dysplasia - diagnostic imaging | Syndrome | Central Nervous System - diagnostic imaging | Craniofacial Abnormalities - diagnostic imaging | Pregnancy | Phenotype | Ichthyosis - diagnostic imaging | Ultrasonography | Female | Rare Diseases - diagnostic imaging | Consanguinity
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 07/2015, Volume 32, Issue 4, pp. e151 - e155
Oral retinoids are being increasingly used to treat ichthyotic disorders in children. We report on two children with ichthyotic disorders who developed unusual...
FRACTURE | RICKETS | ACID | ADOLESCENTS | RISK | PEDIATRICS | CHILDREN | DERMATOLOGY | Keratolytic Agents - therapeutic use | Isotretinoin - therapeutic use | Administration, Oral | Humans | Ichthyosis - drug therapy | Vitamin D Deficiency - chemically induced | Keratolytic Agents - adverse effects | Child, Preschool | Vitamin D Deficiency - diagnostic imaging | Vitamin D - blood | Radiography | Ichthyosis - pathology | Vitamin D Deficiency - blood | Biopsy | Bone and Bones - diagnostic imaging | Female | Acitretin - therapeutic use | Child | Acitretin - adverse effects | Isotretinoin - adverse effects | Skin - pathology | Calcifediol | Care and treatment | Alfacalcidol | Retinoids | Vitamin D | Ichthyosis
FRACTURE | RICKETS | ACID | ADOLESCENTS | RISK | PEDIATRICS | CHILDREN | DERMATOLOGY | Keratolytic Agents - therapeutic use | Isotretinoin - therapeutic use | Administration, Oral | Humans | Ichthyosis - drug therapy | Vitamin D Deficiency - chemically induced | Keratolytic Agents - adverse effects | Child, Preschool | Vitamin D Deficiency - diagnostic imaging | Vitamin D - blood | Radiography | Ichthyosis - pathology | Vitamin D Deficiency - blood | Biopsy | Bone and Bones - diagnostic imaging | Female | Acitretin - therapeutic use | Child | Acitretin - adverse effects | Isotretinoin - adverse effects | Skin - pathology | Calcifediol | Care and treatment | Alfacalcidol | Retinoids | Vitamin D | Ichthyosis
Journal Article