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1. Beyond the adrenals: Organ manifestations in inherited primary adrenal insufficiency in children
by Kamrath, Clemens
European journal of endocrinology, ISSN 0804-4643, 03/2020, Volume 182, Issue 3, pp. C9 - C12
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Immunologic Deficiency Syndromes - etiology | Skin Diseases - genetics | Humans | Brain Diseases - genetics | Growth Disorders - etiology | Addison Disease - complications | Nephrotic Syndrome - genetics | Adrenal Hyperplasia, Congenital - genetics | Bone Diseases, Developmental - genetics | Cardiomyopathies - etiology | Bone Diseases, Developmental - physiopathology | Brain Diseases - physiopathology | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Molecular Diagnostic Techniques | Adrenal Hyperplasia, Congenital - diagnosis | Addison Disease - genetics | Skin Diseases - physiopathology | Brain Diseases - etiology | Disorders of Sex Development - physiopathology | Hypoadrenocorticism, Familial - complications | Bone Diseases, Developmental - etiology | Hypoadrenocorticism, Familial - physiopathology | Addison Disease - physiopathology | Adrenal Hyperplasia, Congenital - complications | Disorders of Sex Development - genetics | Addison Disease - diagnosis | Skin Diseases - etiology | Nephrotic Syndrome - physiopathology | Immunologic Deficiency Syndromes - physiopathology | Adrenal Hyperplasia, Congenital - physiopathology | Disorders of Sex Development - etiology | Immunologic Deficiency Syndromes - genetics | Hypoadrenocorticism, Familial - diagnosis | Hypoadrenocorticism, Familial - genetics | Growth Disorders - genetics | Nephrotic Syndrome - etiology | Growth Disorders - physiopathology | Corticoids | Pediatrics | Orchidectomy | Kidneys | Glucocorticoids | Adrenal glands | Adrenal cortex | Heredity | Thyroid gland | Hydrocortisone | Patients | Pregnancy | Bone growth | Fertility | Bone marrow | Children | Diagnosis | Parathyroid | Gonads | Thyroid | Tumors
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2. Full Text Further delineation of Malan syndrome
by Priolo, Manuela and Schanze, Denny and Tatton-Brown, Katrin and Mulder, Paul A and Tenorio, Jair and Kooblall, Kreepa and Acero, Inés Hernández and Alkuraya, Fowzan S and Arias, Peo and Bernardini, Laura and Bijlsma, Emilia K and Cole, Trevor and Coubes, Christine and Dapia, Irene and Davies, Sally and di Donato, Nataliya and Elcioglu, Nursel H and Fahrner, Jill A and Foster, Alison and González, Noelia García and Huber, Ilka and Iascone, Maria and Kaiser, Ann-Sophie and Kamath, Arveen and Liebelt, Jan and Lynch, Sally Ann and Maas, Saskia M and Mammì, Corrado and Mathijssen, Inge B and McKee, Shane and Menke, Leonie A and Mirzaa, Ghayda M and Montgomery, Tara and Neubauer, Dorothee and Neumann, Thomas E and Pintomalli, Letizia and Pisanti, Maria Antonietta and Plomp, Astrid S and Price, Sue and Salter, Claire and Santos-Simarro, Fernando and Sarda, Pierre and Segovia, Mabel and Shaw-Smith, Charles and Smithson, Sarah and Suri, Mohnish and Valdez, Rita Maria and van Haeringen, Arie and van Hagen, Johanna M and Zollino, Marcela and Lapunzina, Pablo and Thakker, Rajesh V and Zenker, Martin and Hennekam, Raoul C
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1226 - 1237
Marshall‐Smith syndrome | phenotype | NFIX | Sotos syndrome | Malan syndrome | Weaver syndrome | phenotype‐genotype | phenotype-genotype | Marshall-Smith syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Bone Diseases, Developmental - genetics | Craniofacial Abnormalities - physiopathology | NFI Transcription Factors - genetics | Bone Diseases, Developmental - physiopathology | Mutation, Missense - genetics | Intellectual Disability - genetics | Young Adult | Septo-Optic Dysplasia - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Adult | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Chromosome Deletion | Megalencephaly - genetics | Developmental Disabilities - physiopathology | Megalencephaly - physiopathology | Sotos Syndrome - genetics | Septo-Optic Dysplasia - physiopathology | Exons - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Gene mutations | Epilepsy | Codon | Body height | Phenotypes | Stop codon | Anxiety | Children | Genotypes | Life Sciences
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3. Full Text Developmental outcomes of cord blood transplantation for Krabbe disease A 15-year study
by Wright, Matthew D and Poe, Michele D and DeRenzo, Anthony and Haldal, Shilpa and Escolar, Maria L
Neurology, ISSN 0028-3878, 09/2017, Volume 89, Issue 13, pp. 1365 - 1372
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - diagnostic imaging | Prospective Studies | Follow-Up Studies | Brain - physiopathology | Humans | Kaplan-Meier Estimate | Child, Preschool | Infant | Male | Treatment Outcome | Brain - growth & development | Leukodystrophy, Globoid Cell - psychology | Leukodystrophy, Globoid Cell - physiopathology | Disease Progression | Cord Blood Stem Cell Transplantation | Adolescent | Bone Marrow Transplantation | Female | Child Development | Leukodystrophy, Globoid Cell - mortality | Leukodystrophy, Globoid Cell - therapy | Child | Longitudinal Studies | Index Medicus | Abridged Index Medicus | 228 | 40 | 155
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4. Full Text Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
by Azakli, Hülya and Akkaya, Ayse Deniz and Aygün, Murat Serhat and Demirkesen, Cüyan and Eraslan, Serpil and Kayserili, Hülya
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 123 - 129
smooth muscle hamartoma | TODPD | hypopigmented patch | filamin A | digital fibroma | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Fingers - diagnostic imaging | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Fingers - physiopathology | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - physiopathology | Toes - diagnostic imaging | Osteochondrodysplasias - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Osteochondrodysplasias - diagnostic imaging | Filamins - genetics | Fingers - abnormalities | Bone Diseases, Developmental - diagnosis | Toes - physiopathology | Genetic Diseases, X-Linked - physiopathology | Pigmentation Disorders - physiopathology | Hypopigmentation - genetics | Pigmentation Disorders - diagnosis | Osteochondrodysplasias - diagnosis | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Hand - physiopathology | Limb Deformities, Congenital - diagnosis | Hypopigmentation - physiopathology | Osteochondrodysplasias - physiopathology | Phenotype | Turkey - epidemiology | Bone Diseases, Developmental - diagnostic imaging | Limb Deformities, Congenital - diagnostic imaging | Hypopigmentation - diagnostic imaging | Pigmentation Disorders - diagnostic imaging | Mutation | Skin - physiopathology | Toes - abnormalities | Phenotypes | Splicing | Scalp | Bone dysplasia | Smooth muscle | Skeleton | Skin | Children | Neoplasia | Defects | Ossification | Index Medicus
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5. Full Text The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
by Farach, Laura S and Little, Mary E and Duker, Angela L and Logan, Clare V and Jackson, Andrew and Hecht, Jaqueline T and Bober, Michael
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 465 - 469
microcephaly | RNU4ATAC | Lowry Wood syndrome | skeletal dysplasia | epiphyseal dysplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Retinal Diseases - genetics | Microcephaly - genetics | Humans | Child, Preschool | Mental Retardation, X-Linked - physiopathology | Fetal Growth Retardation - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Mental Retardation, X-Linked - genetics | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Microcephaly - physiopathology | Dwarfism - physiopathology | Developmental Disabilities - physiopathology | Fetal Growth Retardation - physiopathology | Intellectual Disability - physiopathology | Primary Immunodeficiency Diseases | Dwarfism - genetics | Osteochondrodysplasias - physiopathology | Phenotype | Immunologic Deficiency Syndromes - physiopathology | Adolescent | Immunologic Deficiency Syndromes - genetics | Mutation | Growth Disorders - genetics | Retinal Diseases - physiopathology | Growth Disorders - physiopathology | Medicine, Experimental | Medical research | Dysplasia | Genetic aspects | Immunodeficiency | Dwarfism | Bone dysplasia | Skeleton | Microencephaly | Microcephaly | Etiology | Index Medicus
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6. Full Text Review: developmental origins of osteoporotic fracture
by Cooper, Cyrus and Cooper, Cyrus and Westlake, Sarah and Westlake, Sarah and Harvey, Nicholas and Harvey, Nicholas and Javaid, Kassim and Javaid, Kassim and Dennison, Elaine and Dennison, Elaine and Hanson, Mark and Hanson, Mark
Osteoporosis international, ISSN 0937-941X, 3/2006, Volume 17, Issue 3, pp. 337 - 347
Osteoporosis | Medicine & Public Health | Growth | Gynecology | Orthopedics | Rheumatology | Development | Programming | Epidemiology | Endocrinology | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Osteoporosis. Osteomalacia. Paget disease | Biological and medical sciences | Injuries of the limb. Injuries of the spine | Medical sciences | Traumas. Diseases due to physical agents | Diseases of the osteoarticular system | Osteoporosis - embryology | Bone Density | Fractures, Bone - embryology | Bone Development - physiology | Child Nutritional Physiological Phenomena | Humans | Middle Aged | Male | Maternal Exposure | Pregnancy | Fractures, Bone - etiology | Osteoporosis - complications | Adolescent | Fractures, Bone - physiopathology | Adult | Female | Vitamin D - metabolism | Aged | Exercise - physiology | Child | Osteoporosis - physiopathology | Infant, Newborn | Care and treatment | Wounds and injuries | Risk factors | Index Medicus
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7. Full Text Non lethal Raine syndrome and differential diagnosis
by Elalaoui, Siham Chafai and Al-Sheqaih, Nada and Ratbi, Ilham and Urquhart, Jill E and O'Sullivan, James and Bhaskar, Sanjeev and Williams, Simon S and Elalloussi, Mustapha and Lyahyai, Jaber and Sbihi, Leila and Cherkaoui Jaouad, Imane and Sbihi, Abdelhafid and Newman, William G and Sefiani, Abdelaziz
European journal of medical genetics, ISSN 1769-7212, 2016, Volume 59, Issue 11, pp. 577 - 583
Medical Education | Raine syndrome | FAM20C gene | Kohlschutter-Tonz syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cleft Palate - diagnosis | Microcephaly - genetics | Seizures - genetics | Bone Diseases, Developmental - mortality | Casein Kinase I - genetics | Humans | Dementia - diagnosis | Dementia - physiopathology | Learning Disorders - physiopathology | Male | Cleft Palate - genetics | Epilepsy - mortality | Microcephaly - mortality | Abnormalities, Multiple - mortality | Amelogenesis Imperfecta - genetics | Bone Diseases, Developmental - genetics | Epilepsy - physiopathology | Exophthalmos - mortality | Dementia - genetics | Bone Diseases, Developmental - physiopathology | Osteosclerosis - mortality | Seizures - physiopathology | Amelogenesis Imperfecta - diagnosis | Exophthalmos - genetics | Amelogenesis Imperfecta - mortality | Epilepsy - genetics | Female | Microcephaly - physiopathology | Osteosclerosis - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Cleft Palate - mortality | Osteosclerosis - diagnosis | Amelogenesis Imperfecta - physiopathology | Extracellular Matrix Proteins - genetics | Microcephaly - diagnosis | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Abnormalities, Multiple - physiopathology | Exophthalmos - diagnosis | Dementia - mortality | Epilepsy - diagnosis | Phenotype | Abnormalities, Multiple - diagnosis | Adolescent | Learning Disorders - genetics | Osteosclerosis - physiopathology | Biodegradation | Dysplasia | Learning disabilities | Diagnosis | Seizures (Medicine) | Casein | Index Medicus
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8. Full Text The consequences of chronic kidney disease on bone metabolism and growth in children
by Bacchetta, Justine and Harambat, Jérôme and Cochat, Pierre and Salusky, Isidro B and Wesseling-Perry, Katherine
Nephrology, dialysis, transplantation, ISSN 0931-0509, 08/2012, Volume 27, Issue 8, pp. 3063 - 3071
paediatrics | chronic kidney disease | bone | growth | vascular calcifications | Transplantation | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Emergency and intensive care: renal failure. Dialysis management | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Intensive care medicine | Medical sciences | Developmental Disabilities - physiopathology | Vascular Diseases - etiology | Developmental Disabilities - etiology | Humans | Chronic Kidney Disease-Mineral and Bone Disorder - physiopathology | Growth Disorders - diagnosis | Growth Disorders - etiology | Vascular Diseases - physiopathology | Bone Development | Renal Insufficiency, Chronic - complications | Chronic Kidney Disease-Mineral and Bone Disorder - diagnosis | Vascular Diseases - diagnosis | Renal Insufficiency, Chronic - pathology | Renal Insufficiency, Chronic - metabolism | Bone and Bones - metabolism | Child Development | Chronic Kidney Disease-Mineral and Bone Disorder - etiology | Minerals - metabolism | Child | Developmental Disabilities - diagnosis | Growth Disorders - physiopathology | Index Medicus | Cutting-Edge Renal Science
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9. Full Text Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: A case report
by Alves, Rita Maria and Uva, Paolo and Veiga, Marielza F and Oppo, Manuela and Zschaber, Fabiana C. R and Porcu, Giampiero and Porto, Henrique P and Persico, Ivana and Onano, Stefano and Cuccuru, Gianmauro and Atzeni, Rossano and Vieira, Lauro C. N and Pires, Marcos V. A and Cucca, Francesco and Toralles, Maria Betânia P and Angius, Andrea and Crisponi, Laura
BMC medical genetics, ISSN 1471-2350, 01/2019, Volume 20, Issue 1, pp. 16 - 16
Generalized epilepsy with febrile seizures (GEFS+) | SCN9A gene | KBG syndrome | Whole exome sequencing | ANKRD11 gene | Epilepsy, Generalized - genetics | Abnormalities, Multiple - etiology | Tooth Abnormalities - physiopathology | Humans | Tooth Abnormalities - diagnostic imaging | Electroencephalography | Bone Diseases, Developmental - genetics | Genetic Loci | Bone Diseases, Developmental - physiopathology | Intellectual Disability - genetics | Tooth Abnormalities - etiology | Seizures, Febrile - physiopathology | Seizures, Febrile - genetics | Facies | Brazil | Female | NAV1.7 Voltage-Gated Sodium Channel - genetics | Abnormalities, Multiple - genetics | Bone Diseases, Developmental - etiology | Genetic Predisposition to Disease | Tooth Abnormalities - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Repressor Proteins - genetics | Abnormalities, Multiple - diagnostic imaging | Abnormalities, Multiple - physiopathology | Whole Exome Sequencing | Intellectual Disability - physiopathology | Phenotype | Epilepsy, Generalized - physiopathology | Bone Diseases, Developmental - diagnostic imaging | Pedigree | Adolescent | Alleles | Heterozygote | Intellectual Disability - etiology | Mutation | Case studies | Usage | Gene mutations | Epilepsy | Exome sequencing | Genetic aspects | Diagnosis | Research | Phenotypes | Intellectual disabilities | EEG | Hereditary diseases | Genotype & phenotype | Convulsions & seizures | Etiology | Point mutation | Bioinformatics | Age | Seizures
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10. Full Text Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force
by Loukin, Stephen and Zhou, Xinliang and Su, Zhenwei and Saimi, Yoshiro and Kung, Ching
The Journal of biological chemistry, ISSN 0021-9258, 08/2010, Volume 285, Issue 35, pp. 27176 - 27181
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Xenopus | Humans | Genetic Diseases, Inborn - genetics | Rats | Phospholipases A2 - metabolism | Bone Diseases, Developmental - genetics | Genetic Diseases, Inborn - pathology | Mutation, Missense | Bone Diseases, Developmental - physiopathology | Oocytes | TRPV Cation Channels - genetics | Bone Diseases, Developmental - pathology | TRPV Cation Channels - metabolism | Animals | Bone Diseases, Developmental - metabolism | Weight-Bearing | Genetic Diseases, Inborn - metabolism | Genetic Diseases, Inborn - physiopathology | Disease Models, Animal | Phospholipases A2 - genetics | Index Medicus | Molecular Bases of Disease | Calcium Channels | Ion Channels | TRP Channels | TRPV4 | Neurobiology | Metabolic Diseases | Electrophysiology | Mechanosensitivity | Bone | Brachyolmia | Patch Clamp
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11.