Výsledky vyhľadávania - "Growth Disorders diagnosis"

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

Autori: Wright, CF Campbell, P Eberhardt, RY a ďalší

Prispievatelia: Wright, CF Campbell, P Eberhardt, RY a ďalší

Zdroj: Wright, C F, Campbell, P, Eberhardt, R Y, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, E J, Chundru, V K, Lindsay, S J, Andrews, K A, Hampstead, J, Kaplanis, J, Samocha, K E, Middleton, A, Foreman, J, Hobson, R J, Parker, M, Martin, H C, FitzPatrick, D R, Hurles, M E & Firth, H V 2023, ' Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland ', New England Journal of Medicine . https://doi.org/https://www.nejm.org/doi/10.1056/NEJMoa2209046?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
DDD Study 2023, ' Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland ', The New England Journal of Medicine, vol. 388, no. 17, pp. 1559-1571 . https://doi.org/10.1056/NEJMoa2209046

Predmety: Congenital Abnormalities/diagnosis/genetics, rare disease, Ireland/epidemiology, Child Behavior Disorders, Congenital Abnormalities, Rare Diseases, Inborn/diagnosis, Humans, Child Behavior Disorders/diagnosis, Exome, Growth Disorders/diagnosis, Child, Child Behavior Disorders/diagnosis/genetics, Genetic Association Studies, Growth Disorders, Oligonucleotide Array Sequence Analysis, United Kingdom/epidemiology, Genetic Diseases, Inborn, Facies, Rare Diseases/diagnosis, Genomics, Congenital Abnormalities/diagnosis, United Kingdom, 3. Good health, Inborn/diagnosis/genetics, Neurodevelopmental Disorders/diagnosis, Neurodevelopmental Disorders/diagnosis/genetics, genomic medicine, Rare Diseases/diagnosis/epidemiology/genetics, Growth Disorders/diagnosis/genetics, Genetic Diseases, Neurodevelopmental Disorders, Genetic Diseases, Inborn/diagnosis, Ireland

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37043637
https://research.manchester.ac.uk/en/publications/4eeb01b5-4c1c-40b9-8f5e-106266a62642
https://doi.org/10.1056/NEJMoa2209046
https://www.pure.ed.ac.uk/ws/files/337797645/Wright_22_09046_Text_PRODCOPY_2.pdf
https://hdl.handle.net/20.500.11820/949718cc-5688-46c2-8f10-c2df896cd0db
https://pure.manchester.ac.uk/ws/files/278951560/nejmoa2209046.pdf
https://research.manchester.ac.uk/en/publications/4eeb01b5-4c1c-40b9-8f5e-106266a62642
https://doi.org/10.1056/NEJMoa2209046

Two-year outcome data suggest that less invasive surfactant administration (LISA) is safe. Results from the follow-up of the randomized controlled AMV (avoid mechanical ventilation) study

Autori: Herting, Egbert Kribs, Angela Härtel, Christoph a ďalší

Zdroj: Eur J Pediatr

Predmety: Male, Respiratory Distress Syndrome, Newborn, Continuous Positive Airway Pressure, Short Communication, Infant, Newborn, Pulmonary Surfactants, Infant, Newborn [MeSH], Infant, Premature [MeSH], Pulmonary Surfactants/therapeutic use [MeSH], Growth Disorders/etiology [MeSH], Neurodevelopmental Disorders/prevention, Neurodevelopmental Disorders/diagnosis [MeSH], Neurodevelopmental Disorders/etiology [MeSH], Male [MeSH], Respiration, Artificial/statistics, Continuous Positive Airway Pressure [MeSH], Female [MeSH], Outcome, Follow-Up Studies [MeSH], Humans [MeSH], Pulmonary Surfactants/administration, Treatment Outcome [MeSH], LISA – CPAP, Respiratory Distress Syndrome, Newborn/therapy [MeSH], Respiratory Distress Syndrome, Newborn/drug therapy [MeSH], Premature infants, Growth Disorders/prevention, Growth Disorders/diagnosis [MeSH], Catheterization [MeSH], Less invasive surfactant, Child, Preschool [MeSH], Respiration, Artificial, Catheterization, 3. Good health, 03 medical and health sciences, Treatment Outcome, 0302 clinical medicine, Neurodevelopmental Disorders, Child, Preschool, Humans, Female, Growth Disorders, Infant, Premature, Follow-Up Studies

Prístupová URL adresa: https://link.springer.com/content/pdf/10.1007/s00431-020-03572-0.pdf
https://pubmed.ncbi.nlm.nih.gov/32067100
https://www.ncbi.nlm.nih.gov/pubmed/32067100
https://khepri-node.dev.meta-infra.org/papers/two-year-outcome-data-suggest-that-less-invasive/32067100
https://link.springer.com/article/10.1007/s00431-020-03572-0
https://link.springer.com/content/pdf/10.1007/s00431-020-03572-0.pdf
https://pubmed.ncbi.nlm.nih.gov/32067100/
https://repository.publisso.de/resource/frl:6467384

Recognition of Kabuki Syndrome

Autori: Justo Pereira, Ana Rita Lindo Santos Gomes Pereira, Andreia Sá, Joaquim a ďalší

Zdroj: Portuguese Journal of Pediatrics, Vol 54, Iss 2 (2023)
Portuguese Journal of Pediatrics; Vol. 54 No. 2 (2023)
Portuguese Journal of Pediatrics; Vol. 54 N.º 2 (2023)

Predmety: Craniofacial Abnormalities, Abnormalities, Multiple/diagnosis, Medicine (General), R5-920, Abnormalities, Multiple/genetics, HDE NEU PED, Growth Disorders/genetics, Child, Growth Disorders/diagnosis, Pediatrics, Intellectual Disability/genetics, RJ1-570, 3. Good health

Popis súboru: application/pdf

Prístupová URL adresa: https://doaj.org/article/d678f8c8f6a5433aaebdfaf4751c01d0
http://hdl.handle.net/10400.17/4982
https://ojs.pjp.spp.pt/article/view/24753

Prospective study of psychological development of adolescent female athletes: initial assessment.

Autori: Theintz, G. Ladame, F. Kehrer, E. a ďalší

Predmety: Adolescent, Adolescent Psychology, Age Determination by Skeleton, Child, Female, Growth, Growth Disorders/diagnosis, Growth Disorders/epidemiology, Gymnastics/physiology, Gymnastics/psychology, Human Development, Humans, Matched-Pair Analysis, Menarche, Mental Disorders/diagnosis, Mental Disorders/epidemiology, Prospective Studies, Risk Factors, Swimming/physiology, Swimming/psychology

Relation: Journal of Adolescent Health; https://iris.unil.ch/handle/iris/48952; serval:BIB_549459DBB87B; A1994NP01000011; 8075098

Dostupnosť: https://iris.unil.ch/handle/iris/48952
https://doi.org/10.1016/1054-139X(94)90513-4

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Autori: Garavelli, L. Maini, I. Baccilieri, F. a ďalší

Predmety: Brachydactyly, Child, Cryptorchidism/complications, Cryptorchidism/diagnosis, Cryptorchidism/genetics, Facies, Fingers/abnormalities, Fingers/diagnostic imaging, Growth Disorders/complications, Growth Disorders/diagnosis, Growth Disorders/genetics, Hand Deformities, Congenital/complications, Congenital/diagnosis, Congenital/genetics, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Male, Mutation, Missense/genetics, Nails, Malformed/physiopathology, Pericarditis/etiology, Phenotype, Radiography, Retrospective Studies, Smad4 Protein/genetics, Cardiac tamponade

Relation: European Journal of Pediatrics; https://iris.unil.ch/handle/iris/233470; serval:BIB_E38F53238588; 000385145600005

Dostupnosť: https://iris.unil.ch/handle/iris/233470
https://doi.org/10.1007/s00431-016-2761-3

Two years in growth hormone 2017–18

Autori: P.E. Clayton A.J. Whatmore

Zdroj: Clayton, P & Whatmore, A 2019, 'Two years in growth hormone 2017–18', Growth Hormone & IGF Research, vol. 48-49, pp. 60-64. https://doi.org/10.1016/j.ghir.2019.10.003

Predmety: 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, Time Factors, Human Growth Hormone, growth disorders/diagnosis, Humans, human growth hormone/therapeutic use, humans, time factors, Growth Disorders, 3. Good health

Popis súboru: application/octet-stream

Prístupová URL adresa: https://www.research.manchester.ac.uk/portal/en/publications/two-years-in-growth-hormone-201718(3f11b9bf-b405-4a5c-a763-dd509db25be8).html
https://pubmed.ncbi.nlm.nih.gov/31706073
https://research.manchester.ac.uk/en/publications/3f11b9bf-b405-4a5c-a763-dd509db25be8
https://doi.org/10.1016/j.ghir.2019.10.003
https://www.sciencedirect.com/science/article/pii/S1096637419300528
https://www.research.manchester.ac.uk/portal/en/publications/two-years-in-growth-hormone-201718(3f11b9bf-b405-4a5c-a763-dd509db25be8).html
https://pubmed.ncbi.nlm.nih.gov/31706073/
https://www.ncbi.nlm.nih.gov/pubmed/31706073
https://research.manchester.ac.uk/en/publications/3f11b9bf-b405-4a5c-a763-dd509db25be8
https://pure.manchester.ac.uk/ws/files/154068136/Two_Years_in_GH_GRS_IGF_Oct_9_2019_Final.docm
https://linkinghub.elsevier.com/retrieve/pii/S1096637419300528
https://doi.org/10.1016/j.ghir.2019.10.003

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Autori: Cassatella, D Howard, SR Acierno, JS a ďalší

Zdroj: Eur J Endocrinol
European journal of endocrinology, vol. 178, no. 4, pp. 377-388
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568 <http://dx.doi.org/10.1530/EJE-17-0568>

Predmety: Adult, Male, Puberty, Delayed, 0301 basic medicine, Aged, Cohort Studies, Female, Finland/epidemiology, Growth Disorders/diagnosis, Growth Disorders/epidemiology, Growth Disorders/genetics, Humans, Hypogonadism/diagnosis, Hypogonadism/epidemiology, Hypogonadism/genetics, Middle Aged, Mutation/genetics, Puberty, Delayed/diagnosis, Puberty, Delayed/epidemiology, Puberty, Delayed/genetics, Hypogonadism, 610 Medicine & health, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Mutation, Clinical Study, 10. No inequality, Finland, Growth Disorders

Popis súboru: application/pdf

Prístupová URL adresa: https://eje.bioscientifica.com/downloadpdf/journals/eje/178/4/EJE-17-0568.pdf
https://boris.unibe.ch/123702/1/%5B1479683X%20-%20European%20Journal%20of%20Endocrinology%5D%20Congenital%20hypogonadotropic%20hypogonadism%20and%20constitutional%20delay%20of%20growth%20and%20puberty%20have%20distinct%20genetic%20architectures.pdf
https://pubmed.ncbi.nlm.nih.gov/29419413
http://www.espeyearbook.org/ey/0015/ey0015.7-8.htm
https://www.zora.uzh.ch/id/eprint/157982/
https://eprints.ncl.ac.uk/file_store/production/247417/CB8C0EB6-47AC-4044-AD95-9075E16ADFBC.pdf
https://boris.unibe.ch/123702/
https://www.eje-online.org/content/178/4/377.full
https://discovery.ucl.ac.uk/10051503/
https://doi.org/10.1530/EJE-17-0568
https://avesis.gazi.edu.tr/publication/details/f55047ec-e54c-448f-acec-c5c1c413896b/oai
http://hdl.handle.net/10044/1/107031
https://serval.unil.ch/notice/serval:BIB_92D278111021
https://serval.unil.ch/resource/serval:BIB_92D278111021.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_92D2781110219
https://boris.unibe.ch/123702/
https://discovery-pp.ucl.ac.uk/id/eprint/10051503/

Symptomatic zinc deficiency in a breast-fed infant / Symptomatisk zinkmangel hos et brysternaeret spaedbarn

Autori: Hvid, Lone Zachariassen, Gitte Honoré, Karina Dyrvig a ďalší

Zdroj: Ugeskrift for Laeger. 180(2):159

Growth hormone treatment for children / Tillväxthormonbehandling av barn

Autori: Dahlgren, Jovanna

Zdroj: Barnbladet. 45(2):34

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

Autori: Tamar I de Vries Glen R Monroe Martine J van Belzen a ďalší

Prispievatelia: Tamar I de Vries Glen R Monroe Martine J van Belzen a ďalší

Zdroj: de Vries, T I, Monroe, G R, van Belzen, M J, van der Lans, C A, Savelberg, S M, Newman, W G, van Haaften, G, Nievelstein, R A & van Haelst, M M 2016, 'Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes', European Journal of Human Genetics, vol. 24, no. 9, pp. 1363-6. https://doi.org/10.1038/ejhg.2016.14
de Vries, T I, Monroe, G R, van Belzen, M J, van der Lans, C A, Savelberg, S M, Newman, W G, van Haaften, G, Nievelstein, R A & van Haelst, M M 2016, 'Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes', European journal of human genetics : EJHG, vol. 24, no. 9, pp. 1363-6. https://doi.org/10.1038/ejhg.2016.14

Predmety: Male, 0301 basic medicine, Microcephaly/diagnosis, Syndactyly/diagnosis, Case Reports, Cytoskeletal Proteins/genetics, Diagnosis, Differential, 03 medical and health sciences, Intellectual Disability, Rubinstein-Taybi Syndrome/diagnosis, Diagnosis, Genetics, Journal Article, Humans, Genetics(clinical), Genetic Testing, Growth Disorders/diagnosis, Child, Growth Disorders, Rubinstein-Taybi Syndrome, CREB-Binding Protein/genetics, 0303 health sciences, Mosaicism, Intellectual Disability/diagnosis, Homozygote, Facies, CREB-Binding Protein, 3. Good health, Cytoskeletal Proteins, Phenotype, Differential, Mutation, Microcephaly, Syndactyly, Genetic Testing/methods

Popis súboru: application/pdf

Prístupová URL adresa: https://www.nature.com/articles/ejhg201614.pdf
https://pubmed.ncbi.nlm.nih.gov/26956253
https://core.ac.uk/display/148795644
https://www.nature.com/articles/ejhg201614
https://www.ncbi.nlm.nih.gov/pubmed/26956253
https://europepmc.org/abstract/MED/26956253
https://www.nature.com/articles/ejhg201614.pdf
https://www.research.manchester.ac.uk/portal/en/publications/mosaic-crebbp-mutation-causes-overlapping-clinical-features-of-rubinsteintaybi-and-filippi-syndromes(f4e2a829-d7ab-4c75-ba78-0a00d57d1a0c).html
https://research.vumc.nl/en/publications/e6607298-9da8-473e-94c1-2f8bb56d4bb7
https://dspace.library.uu.nl/handle/1874/346534

Successive 1-Month Weight Increments in Infancy Can Be Used to Screen for Faltering Linear Growth

Autori: Onyango, Adelheid W Borghi, Elaine de Onis, Mercedes a ďalší

Zdroj: The Journal of Nutrition. 145:2725-2731

Predmety: Bangladesh (epidemiology), weight increments, Weight Gain, World Health Organization, 03 medical and health sciences, 0302 clinical medicine, Reference Values, Risk Factors, Humans, Mass Screening, Child, Preschool, Growth Disorders, Mass Screening (methods), linear growth, Bangladesh, malnutrition screening, Growth Disorders (diagnosis, Malnutrition, Infant, Newborn, Infant, Newborn, Body Height, 3. Good health, growth faltering, Weight Gain (physiology), Child, Preschool, growth velocity, epidemiology, prevention & control), stunting prevention, Malnutrition (complications), Public Health Education and Promotion

Popis súboru: application/pdf

Prístupová URL adresa: https://academic.oup.com/jn/article-pdf/145/12/2725/30059444/jn211896.pdf
https://pubmed.ncbi.nlm.nih.gov/26468489
http://repository.ias.ac.in/99779/
http://europepmc.org/abstract/MED/26468489
https://www.ncbi.nlm.nih.gov/pubmed/26468489
https://academic.oup.com/jn/article/145/12/2725/4615971
https://jhu.pure.elsevier.com/en/publications/successive-1-month-weight-increments-in-infancy-can-be-used-to-sc-4
https://pubmed.ncbi.nlm.nih.gov/26468489/

Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA

Autori: Kang, HC Baek, ST Song, S a ďalší

Prispievatelia: Kang, HC Baek, ST Song, S a ďalší

Zdroj: The Journal of Pediatrics. 167:957-962

Predmety: 0301 basic medicine, Lipoma/diagnosis, Lipoma/genetics, Nevus/genetics, Class I Phosphatidylinositol 3-Kinases, Vascular Malformations, DNA Mutational Analysis, Mutation, Genetic Counseling, Polymerase Chain Reaction, Vascular Malformations/diagnosis, Diagnosis, Differential, POLYMICROGYRIA, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, Diagnosis, Growth Disorders/diagnosis, FOCAL CORTICAL DYSPLASIA, Humans, BRAIN, FIBROADIPOSE HYPERPLASIA, Preschool, Child, Nevus, PROTEUS-SYNDROME, Growth Disorders, Phosphatidylinositol 3-Kinases/genetics, Musculoskeletal Abnormalities/diagnosis, 0303 health sciences, ACTIVATING MUTATIONS, AKT3, Musculoskeletal Abnormalities/genetics, Nevus/diagnosis, Infant, Newborn, Infant, Syndrome, Newborn, Musculoskeletal Abnormalities, COPY NUMBER, EPIDERMAL-NEVI, Child, Preschool, Differential, Vascular Malformations/genetics, Lipoma, DIFFERENTIAL-DIAGNOSIS, Growth Disorders/genetics

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/26340871
https://yonsei.pure.elsevier.com/en/publications/clinical-and-genetic-aspects-of-the-segmental-overgrowth-spectrum
https://ir.ymlib.yonsei.ac.kr/handle/22282913/156705
https://europepmc.org/article/MED/26340871
http://www.sciencedirect.com/science/article/pii/S0022347615008276
https://www.sciencedirect.com/science/article/pii/S0022347615008276
https://www.ncbi.nlm.nih.gov/pubmed/26340871

To be born small and its influence on growth / Att vara född liten och dess påverkan på tillväxt

Autori: Dahlgren, Jovanna

Zdroj: Barnbladet. 42(3):10

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Autori: Paulien A Terhal Raoul C.M. Hennekam Andrew P. Jackson a ďalší

Zdroj: de Munnik, S A, Bicknell, L S, Aftimos, S, Al-Aama, J Y, van Bever, Y, Bober, M B, Clayton-Smith, J, Edrees, A Y, Feingold, M, Fryer, A, van Hagen, J M, Hennekam, R C, Jansweijer, M C E, Johnson, D, Kant, S G, Opitz, J M, Ramadevi, A R, Reardon, W, Ross, A, Sarda, P, Schrander-Stumpel, C, Schoots, J, Temple, I K, Terhal, P A, Toutain, A, Wise, C A, Wright, M, Skidmore, D L, Samuels, M E, Hoefsloot, L H, Knoers, N V A M, Brunner, H G, Jackson, A P & Bongers, E M H F 2012, 'Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis', European Journal of Human Genetics, vol. 20, no. 6, pp. 598-606. https://doi.org/10.1038/ejhg.2011.269
European Journal of Human Genetics, 20, 6, pp. 598-606
de Munnik, S A, Bicknell, L S, Aftimos, S, Al-Aama, J Y, van Bever, Y, Bober, M B, Clayton-Smith, J, Edrees, A Y, Feingold, M, Fryer, A, van Hagen, J M, Hennekam, R C, Jansweijer, M C E, Johnson, D, Kant, S G, Opitz, J M, Ramadevi, A R, Reardon, W, Ross, A, Sarda, P, Schrander-Stumpel, C T R M, Schoots, J, Temple, I K, Terhal, P A, Toutain, A, Wise, C A, Wright, M, Skidmore, D L, Samuels, M E, Hoefsloot, L H, Knoers, N V A M, Brunner, H G, Jackson, A P & Bongers, E M H F 2012, ' Meier-Gorlin syndrome genotype-phenotype studies : 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis ', European Journal of Human Genetics, vol. 20, no. 6, pp. 598-606 . https://doi.org/10.1038/ejhg.2011.269

Predmety: Adult, Male, 0301 basic medicine, ear-patella-short stature syndrome, Adolescent, NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders, Micrognathism, Origin Recognition Complex, Cell Cycle Proteins, Ear/abnormalities, 03 medical and health sciences, IGMD 3: Genomic disorders and inherited multi-system disorders, Patella/abnormalities, Origin Recognition Complex/genetics, Genetics, Humans, Genetics(clinical), Preschool, Growth Disorders/diagnosis, Child, Genetic Association Studies, Growth Disorders, Congenital Microtia, Cell Cycle Proteins/genetics, 0303 health sciences, IGMD 9: Renal disorder, Infant, Ear, Meier-Gorlin syndrome, Patella, Middle Aged, Micrognathism/diagnosis, genotype-phenotype, 3. Good health, pre-replication complex, Child, Preschool, Mutation, origin recognition complex, Female

Popis súboru: application/pdf

Prístupová URL adresa: https://www.nature.com/articles/ejhg2011269.pdf
https://pubmed.ncbi.nlm.nih.gov/22333897
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/108642
https://doi.org/10.1038/ejhg.2011.269
https://research.rug.nl/en/publications/271b1fcc-3fd0-4025-9761-72850f58bebd
https://doi.org/10.1038/ejhg.2011.269
https://hdl.handle.net/11370/271b1fcc-3fd0-4025-9761-72850f58bebd
https://cris.maastrichtuniversity.nl/en/publications/f9f7976f-6c39-48f7-af6f-928a43373fdf
https://doi.org/10.1038/ejhg.2011.269
https://repub.eur.nl/pub/65365/
http://europepmc.org/articles/PMC3355263/
https://eprints.soton.ac.uk/334316/
https://research.vumc.nl/en/publications/meier-gorlin-syndrome-genotype-phenotype-studies-35-individuals-w
https://eprints.ncl.ac.uk/195586
https://www.narcis.nl/publication/RecordID/oai%3Ascholarlypublications.universiteitleiden.nl%3Aitem_3015401
https://hdl.handle.net/1871/42578
https://research.vumc.nl/en/publications/3579c75e-95db-4b24-926b-aeab3a535c7d
https://hdl.handle.net/1887/98099
https://hdl.handle.net/1871/42578
https://pure.amsterdamumc.nl/en/publications/c97addd9-3b19-48d2-9850-b60b8cc1f7aa
https://doi.org/10.1038/ejhg.2011.269
https://repository.ubn.ru.nl//bitstream/handle/2066/108642/108642.pdf
https://hdl.handle.net/2066/108642
https://www.pure.ed.ac.uk/ws/files/8593306/Meier_Gorlin_syndrome_genotype_phenotype_studies_35_individuals_with_pre_replic.pdf
https://hdl.handle.net/20.500.11820/ba799269-89c4-4b6e-bed0-cabc566050b3

Wykorzystanie metod radiologicznych w diagnostyce nowotworów kości u dzieci

Autori: Gibowicz, Aleksandra

Predmety: Martwica kości - diagnostyka, Nowotwory kości - radiografia, Dzieci, Bone and bones - radiography, Growth disorders - radiography, Growth disorders - diagnosis, Nowotwory kości - diagnostyka, Kości, Kości - radiografia, Osteonecrosis - diagnosis, Bone and bones, Ultrasonografia, Child, Ultrasonography

Prístupová URL adresa: https://www.umb.edu.pl/photo/pliki/Dziekanat-WNOZ/monografie/tom-iii.pdf

Diagnosis and management of Silver–Russell syndrome : first international consensus statement

Autori: Wakeling, Emma L. Brioude, Frédéric Lokulo-Sodipe, Oluwakemi a ďalší

Predmety: Silver-Russell syndrome, Diagnosis -- Case studies, Growth disorders -- Diagnosis, Genomic imprinting

Relation: https://www.um.edu.mt/library/oar/handle/123456789/131941

Dostupnosť: https://www.um.edu.mt/library/oar/handle/123456789/131941
https://doi.org/10.1038/nrendo.2016.138

Orthodontic treatment with growth hormone therapy in a girl of short stature

Autori: Jung Yul Cha Chung Ju Hwang Chung-Ju Hwang a ďalší

Prispievatelia: Jung Yul Cha Chung Ju Hwang Chung-Ju Hwang a ďalší

Zdroj: American Journal of Orthodontics and Dentofacial Orthopedics. 126:118-126

Predmety: Palatal Expansion Technique, Adolescent, Growth Disorders/complications, Cephalometry, Angle Class III/therapy, Mandible/drug effects, Mandible, Retrognathia, 03 medical and health sciences, 0302 clinical medicine, Retrognathia/therapy, Extraoral Traction Appliances, Humans, Retrognathia/etiology, Growth Disorders/diagnosis, Child, Maxillofacial Development, Maxillofacial Development/drug effects, Human Growth Hormone/therapeutic use, Growth Disorders, Human Growth Hormone, Retrognathia/diagnosis, Angle Class III/diagnosis, Vertical Dimension, Growth Disorders/drug therapy, Malocclusion, Angle Class III, Treatment Outcome, Angle Class III/complications, Female, Malocclusion

Popis súboru: 118~126

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/15224069
https://www.sciencedirect.com/science/article/abs/pii/S0889540604002884
https://ir.ymlib.yonsei.ac.kr/handle/22282913/111680
https://www.ncbi.nlm.nih.gov/pubmed/15224069
http://www.sciencedirect.com/science/article/pii/S0889540604002884
https://pubmed.ncbi.nlm.nih.gov/15224069/
https://yonsei.pure.elsevier.com/en/publications/orthodontic-treatment-with-growth-hormone-therapy-in-a-girl-of-sh

Estudo do gene do hormônio de crescimento hipofisário (GH1) em indivíduos com baixa estatura idiopática

Study of Growth Hormone 1 gene (GH1) in children with idiophatic short stature

Autori: Lido, Ândria Carla Vito

Thesis Advisors: Jorge, Alexander Augusto de Lima

Predmety: Body height/genetics, Child, Child preschool, Crescimento e desenvolvimento/genética, Criança, Estatura/genética, Fator de crescimento insulin-like I, Genes dominant, Genes dominantes, Growth disorders/blood, Growth disorders/classification, Growth disorders/genetics, Growth and development/genetics, Growth disorders/diagnosis, Growth disorders/etiology, Growth hormone/deficiency, Growth hormone/genetics, Hormônio do crescimento humano/deficiência, Hormônio do crescimento humano/genética, Hormônio do crescimento/deficiência, Hormônio do crescimento/genética, Human growth hormone/deficiency, Human growth hormone/genetics, Insulin-like growth factor I/analysis, Linhagem, Mutação, Mutation, Pedigree, Pré-escolar, Transtornos do crescimento/classificação, Transtornos do crescimento/diagnóstico, Transtornos do crescimento/etiologia, Transtornos do crescimento/genética, Transtornos do crescimento/sangue

Popis súboru: application/pdf

Dostupnosť: http://www.teses.usp.br/teses/disponiveis/5/5135/tde-20102014-145337/

Magnetic resonance imaging in the diagnosis of growth hormone deficiency

Autori: Argyropoulou, M. Perignon, F. Brauner, R. a ďalší

Zdroj: The Journal of Pediatrics. 120:886-891

Predmety: Male, Pituitary Diseases/complications/*diagnosis, Magnetic Resonance Imaging, Pituitary Diseases, Pituitary Function Tests, Growth Disorders/*diagnosis/etiology, Pituitary Gland, Anterior/*abnormalities, 03 medical and health sciences, 0302 clinical medicine, Growth Hormone/*deficiency, Pituitary Gland, Anterior, Reference Values, Growth Hormone, Humans, Female, Child, Growth Disorders

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/1593348
https://www.sciencedirect.com/science/article/abs/pii/S0022347605819559
https://www.ncbi.nlm.nih.gov/pubmed/1593348
http://www.sciencedirect.com/science/article/pii/S0022347605819559
https://pubmed.ncbi.nlm.nih.gov/1593348/
http://olympias.lib.uoi.gr/jspui/handle/123456789/20250

Experimental growth research / Experimentell tillväxtforskning

Autori: Dock, A M

Zdroj: Barnläkaren. 8(2):8