Search Results - "Growth Disorders: genetics"

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I

Authors: Lauren D Punt Sander Kooijman Noa J M Mutsters et al.

Source: J Clin Endocrinol Metab
Journal of Clinical Endocrinology and Metabolism, 110, 5, pp. e1303-e1314

Subject Terms: Male, Adolescent, Dwarfism, Human Growth Hormone/therapeutic use, Haploinsufficiency, Dwarfism/genetics, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Receptors, Humans, Insulin-Like Growth Factor I, Preschool, Receptors, Ghrelin, Child, Growth Disorders, Ghrelin/genetics, Clinical Research Article, Body Height/genetics, Human Growth Hormone, Growth Disorders/genetics, Body Height, IGF-I, short stature, Phenotype, Insulin-Like Growth Factor I/metabolism, Child, Preschool, growth hormone, Human Genetics - Development and lifelong plasticity, Female, GHSR

Access URL: https://pubmed.ncbi.nlm.nih.gov/39785833
https://pure.eur.nl/en/publications/3da66b8a-036a-480e-a7d1-5d2ed8ed3782
https://doi.org/10.1210/clinem/dgaf010
https://hdl.handle.net/11370/c626a8a7-1d3d-451d-b275-680b849573af
https://research.rug.nl/en/publications/c626a8a7-1d3d-451d-b275-680b849573af
https://doi.org/10.1210/clinem/dgaf010
https://cris.maastrichtuniversity.nl/en/publications/4cf7522d-f81d-4a8d-8598-90ca89bdfb71
https://doi.org/10.1210/clinem/dgaf010
https://repository.ubn.ru.nl//bitstream/handle/2066/320878/320878.pdf
https://hdl.handle.net/2066/320878

Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia

Authors: Arend Bokenkamp Antonia Bouts Neeltje van der Weerd et al.

Source: Pediatr Nephrol

Subject Terms: Anthropometry, Disproportionate short stature, Clinical Insights, Schimke immuno-osseous-dysplasia, Pancytopenia/etiology [MeSH], Pancytopenia/diagnosis [MeSH], Growth Disorders/etiology [MeSH], Body Height/genetics [MeSH], Osteochondrodysplasias/genetics [MeSH], Pancytopenia/genetics [MeSH], Arteriosclerosis/genetics [MeSH], Mutation, Missense [MeSH], Pulmonary Embolism/genetics [MeSH], Siblings [MeSH], DNA Helicases/genetics [MeSH], Male [MeSH], Peripheral Vascular Diseases/genetics [MeSH], Primary Immunodeficiency Diseases/diagnosis [MeSH], Child [MeSH], Nephrotic Syndrome/genetics [MeSH], Adolescent [MeSH], Humans [MeSH], Pulmonary Embolism/diagnosis [MeSH], Arteriosclerosis/pathology [MeSH], Osteochondrodysplasias/diagnosis [MeSH], Osteochondrodysplasias/pathology [MeSH], Growth Disorders/genetics [MeSH], Growth Disorders/pathology [MeSH], Primary Immunodeficiency Diseases/genetics [MeSH]

Access URL: https://pubmed.ncbi.nlm.nih.gov/39292251
https://repository.publisso.de/resource/frl:6523982

Combined achondroplasia and short stature homeobox-containing ( SHOX ) gene deletion in a Danish infant

Authors: Seiersen, Kasper V Henriksen, Tine B Andelius, Ted C K et al.

Source: Seiersen, K V, Henriksen, T B, Andelius, T C K, Andreasen, L, Diemer, T, Gudmundsdottir, G, Vogel, I, Gjørup, V & Gregersen, P A 2024, 'Combined achondroplasia and short stature homeobox-containing ( SHOX ) gene deletion in a Danish infant', European Journal of Medical Genetics, vol. 67, 104894. https://doi.org/10.1016/j.ejmg.2023.104894

Subject Terms: Achondroplasia, FGFR3, Infant, SHOX, Short stature homeobox protein, Growth Disorders/genetics, Humans, Osteochondrodysplasias/genetics, Achondroplasia/genetics, Gene Deletion, Homeodomain Proteins/genetics, Denmark, Female, Short Stature Homeobox Protein/genetics, Genes, Homeobox

Availability: https://pure.au.dk/portal/en/publications/72ad996c-dec7-4880-9a2d-b6e30e24f2c7
https://doi.org/10.1016/j.ejmg.2023.104894
http://www.scopus.com/inward/record.url?scp=85179931911&partnerID=8YFLogxK

Recognition of Kabuki Syndrome

Authors: Justo Pereira, Ana Rita Lindo Santos Gomes Pereira, Andreia Sá, Joaquim et al.

Source: 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)

Subject Terms: 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

File Description: application/pdf

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

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

Authors: Garavelli, L. Maini, I. Baccilieri, F. et al.

Subject Terms: 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

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

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

Authors: Cassatella, D Howard, SR Acierno, JS et al.

Source: 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>

Subject Terms: 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

File Description: application/pdf

Access URL: 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/

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Authors: Klaus Klaushofer Alain de Bruin Hülya Kayserili et al.

Contributors: Klaus Klaushofer Alain de Bruin Hülya Kayserili et al.

Source: American Journal of Human Genetics

Subject Terms: Male, 0301 basic medicine, Genetics and heredity, Génétique clinique, ETS2, Developmental Disabilities, Mammalian -- metabolism -- pathology, Growth Disorders -- genetics -- pathology, Gene, Mice, Spine -- abnormalities -- metabolism -- pathology, Taverne, Phosphorylation, Child, Melanoma, Cells, Cultured, Growth Disorders, Cilia -- metabolism -- pathology, Mice, Knockout, 0303 health sciences, Cultured, Pisslre, Cell Cycle, Sciences bio-médicales et agricoles, Cyclin-Dependent Kinases, Pedigree, 3. Good health, Embryo, Child, Preschool, Medicine, Female, Cdk10/Cyclin M, Biologie, Signal Transduction, Cells, Knockout, Genome browser, growth retardation, Cyclin-Dependent Kinases -- genetics -- physiology, 03 medical and health sciences, Journal Article, Animals, Humans, Family, Star syndrome, Protein-kinase, DNA, Member, Cilia, Preschool, Al Kaissi syndrome knockout mice, Cell Proliferation, Fibroblasts -- metabolism -- pathology, congenital disorder, Mammalian, cilia, Biologie moléculaire, Infant, Fibroblasts, Developmental Disabilities -- genetics -- pathology, Embryo, Mammalian, spine malformation, Spine, Mutation, Biologie cellulaire, metabolism, CDK10

File Description: pdf; application/pdf; 1 full-text file(s): application/pdf

Access URL: http://www.cell.com/article/S0002929717303257/pdf
https://pubmed.ncbi.nlm.nih.gov/28886341
https://research-portal.uu.nl/en/publications/1dee4608-fa85-45ee-b93e-e57d7b403ff9
https://doi.org/10.1016/j.ajhg.2017.08.003
http://dspace.library.uu.nl/handle/1874/359867
https://oar.a-star.edu.sg/jspui/handle/123456789/4545
https://pubmed.ncbi.nlm.nih.gov/28886341/
https://www.sciencedirect.com/science/article/pii/S0002929717303257#!
https://europepmc.org/article/PMC/PMC5591019
https://www.ncbi.nlm.nih.gov/pubmed/28886341
https://pure.amsterdamumc.nl/en/publications/d3d17826-2942-40d4-8399-3a32535dd32f
https://doi.org/10.1016/j.ajhg.2017.08.003
https://resolver.sub.uni-goettingen.de/purl?gs-1/16385
https://resolver.sub.uni-goettingen.de/purl?gro-2/13653
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/5046
https://dspace.library.uu.nl/handle/1874/359867

Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly

Authors: Zhang, Shan Reljić, Boris Liang, Chao et al.

Source: ISSN: 2041-1723 ; Nature Communications, vol. 11, no. 1 (2020) 1312.

Subject Terms: info:eu-repo/classification/ddc/616, Acidosis, Lactic/genetics, Animals, Genetically Modified, Disease Models, Animal, Electron Transport Complex III/metabolism, Female, Gene Knockdown Techniques, Growth Disorders/genetics, Humans, Male, Metabolomics, Mitochondria/metabolism, Mitochondrial Proteins/genetics/metabolism, Models, Biological, Open Reading Frames/genetics, Oxidative Phosphorylation, Peptides/genetics/metabolism, Proteomics, Zebrafish/genetics/growth & development, Zebrafish Proteins/genetics/metabolism

Relation: info:eu-repo/semantics/altIdentifier/pmid/32161263; unige:142219

Availability: https://archive-ouverte.unige.ch/unige:142219

Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth

Authors: Loveday, Chey Tatton-Brown, Katrina Clarke, Matthew et al.

Contributors: Loveday, Chey Tatton-Brown, Katrina Clarke, Matthew et al.

Source: Hum Mol Genet

Subject Terms: Models, Molecular, 0301 basic medicine, 2716 Genetics (clinical), Protein Conformation, 610 Medicine & health, 03 medical and health sciences, 1311 Genetics, Models, 1312 Molecular Biology, Protein Phosphatase 2/chemistry, Humans, Exome, Protein Phosphatase 2, Genetic Association Studies, Growth Disorders, 0303 health sciences, Membrane Proteins/chemistry, Molecular, Membrane Proteins, Growth Disorders/genetics, Articles, Phenotype, 10036 Medical Clinic, Mutation

File Description: text; LovedayC, 2015.pdf - application/pdf

Access URL: https://academic.oup.com/hmg/article-pdf/24/17/4775/13940805/ddv182.pdf
https://pubmed.ncbi.nlm.nih.gov/25972378
https://dea.lib.unideb.hu/dea/bitstream/2437/280772/1/FILE_UP_6_Mutation%20in%20the%20PPCA_2015.pdf
https://www.zora.uzh.ch/id/eprint/119109/
http://europepmc.org/articles/PMC4527483
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25972378/
https://pubmed.ncbi.nlm.nih.gov/25972378/
https://eprints.ncl.ac.uk/216508
https://pure.amsterdamumc.nl/en/publications/3a11adeb-7d1d-4f51-81e9-4ab2c710cd89
https://doi.org/10.1093/hmg/ddv182
https://eprints.soton.ac.uk/480746/
https://www.zora.uzh.ch/id/eprint/119109/
https://doi.org/10.5167/uzh-119109

Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly

Authors: Gerben Menschaert Chao Liang Enrico Petretto et al.

Source: Nat Commun
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, Vol. 11, No 1 (2020) P. 1312
NATURE COMMUNICATIONS

Subject Terms: Male, Proteomics, 0301 basic medicine, PROTEOMICS DATA, General Physics and Astronomy, PROTEIN, MICROPEPTIDE, Oxidative Phosphorylation, Open Reading Frames/genetics, Animals, Genetically Modified, Electron Transport Complex III, Models, Electron Transport Complex III/metabolism, Growth Disorders, Zebrafish, ddc:616, 0303 health sciences, Mitochondrial Proteins/genetics/metabolism, SMALL ORFS, Mitochondria, MICROPROTEIN, Zebrafish/genetics/growth & development, Gene Knockdown Techniques, Models, Animal, Acidosis, Lactic, Female, Acidosis, Peptides/genetics/metabolism, DATABASE, Science, Genetics and Molecular Biology, Genetically Modified, Zebrafish Proteins/genetics/metabolism, Models, Biological, Article, Mitochondrial Proteins, Open Reading Frames, 03 medical and health sciences, Lactic/genetics, Mitochondria/metabolism, Animals, Humans, Metabolomics, IDENTIFICATION, Animal, Biology and Life Sciences, General Chemistry, Growth Disorders/genetics, Biological, GENE, SIGNAL, Disease Models, Animal, General Biochemistry, Disease Models, UPDATE, Peptides

File Description: application/pdf

Access URL: https://www.nature.com/articles/s41467-020-14999-2.pdf
https://pubmed.ncbi.nlm.nih.gov/32161263
https://doaj.org/article/0910631e426f49c8a20e80729e44b71d
https://europepmc.org/article/MED/32161263
https://archive-ouverte.unige.ch/unige:142219/ATTACHMENT01
https://biblio.ugent.be/publication/8667799/file/8682775.pdf
https://biblio.ugent.be/publication/8667799
http://ui.adsabs.harvard.edu/abs/2020NatCo..11.1312Z/abstract
https://minerva-access.unimelb.edu.au/handle/11343/245888
https://archive-ouverte.unige.ch/unige:142219
https://biblio.ugent.be/publication/8667799
http://doi.org/10.1038/s41467-020-14999-2
https://biblio.ugent.be/publication/8667799/file/8682775
http://hdl.handle.net/1854/LU-8667799

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

Authors: Kang, HC Baek, ST Song, S et al.

Contributors: Kang, HC Baek, ST Song, S et al.

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

Subject Terms: 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

Access URL: 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

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

Authors: Marc Nicolino Daniel Andrade Da Cunha Miguel Lopes et al.

Contributors: Marc Nicolino Daniel Andrade Da Cunha Miguel Lopes et al.

Source: Diabetes

Subject Terms: Adult, Male, 0301 basic medicine, Protein Phosphatase 1/*genetics, Adolescent, [SDV]Life Sciences [q-bio], Mutation, Missense, 03 medical and health sciences, Protein Phosphatase 1, Diabetes Mellitus, Humans, Diabetes Mellitus/*genetics, Growth Disorders/*genetics, 10. No inequality, Growth Disorders, 2. Zero hunger, 0303 health sciences, Microcephaly/*genetics, Genetics/Genomes/Proteomics/Metabolomics, Mutation, Syndrome, Sciences bio-médicales et agricoles, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, 3. Good health, [SDV] Life Sciences [q-bio], Wessex Classification Subject Headings::Endocrinology::Diabetes, Microcephaly, Female, Missense

File Description: application/pdf; 2 full-text file(s): application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Access URL: https://diabetes.diabetesjournals.org/content/diabetes/64/11/3951.full.pdf
https://pubmed.ncbi.nlm.nih.gov/26159176
https://hal.science/hal-01850506v1
https://doi.org/10.2337/db15-0477
https://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/222110/Details
https://rde.openrepository.com/rde/handle/11287/618123
https://europepmc.org/abstract/MED/26159176
https://diabetes.diabetesjournals.org/content/64/11/3951.full.pdf
https://www.ncbi.nlm.nih.gov/pubmed/26159176
https://www.repository.cam.ac.uk/handle/1810/266066
https://www.repository.cam.ac.uk/handle/1810/266066
https://doi.org/10.17863/cam.10390
https://doi.org/10.2337/db15-0477
https://www.repository.cam.ac.uk/handle/1810/248889
https://doi.org/10.2337/db15-0477

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Authors: Tatton-Brown K Hanks S Ruark E et al.

Source: Tatton-Brown, K, Hanks, S, Ruark, E, Zachariou, A, Duarte, S D V, Ramsay, E, Snape, K, Murray, A, Perdeaux, E R, Seal, S, Loveday, C, Banka, S, Clericuzio, C, Flinter, F, Magee, A, McConnell, V, Patton, M, Raith, W, Rankin, J, Splitt, M, Strenger, V, Taylor, C, Wheeler, P, Temple, I K, Cole, T, Douglas, J & Rahman, N 2011, 'Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height', Oncotarget, vol. 2, no. 12, pp. 1127-1133. < http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=385&path%5B%5D=634 >

Subject Terms: Male, Craniofacial Abnormalities/genetics, Transcription Factors/genetics, Histone-Lysine N-Methyltransferase/genetics, Craniofacial Abnormalities, Histones, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Enhancer of Zeste Homolog 2 Protein, EZH2, Amino Acid Sequence, Germ-Line Mutation, Growth Disorders, Congenital Hypothyroidism/genetics, Congenital/genetics, Histones/genetics, Height, Myeloid malignancies, Polycomb Repressive Complex 2, Facies, Growth Disorders/genetics, DNA, Histone-Lysine N-Methyltransferase, Sequence Analysis, DNA, Hand Deformities, Body Height, 3. Good health, DNA-Binding Proteins, Histone methyltransferase, Weaver syndrome, Multiple/genetics, Histone Methyltransferases, Female, Abnormalities, Sequence Analysis, Hand Deformities, Congenital, DNA-Binding Proteins/genetics, Transcription Factors

File Description: application/pdf; text

Access URL: http://www.oncotarget.com/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=385&path%5B%5D=634
https://pubmed.ncbi.nlm.nih.gov/22190405
https://openaccess.sgul.ac.uk/id/eprint/107294/1/Germline_mutations_oncogene_EZH2.pdf
https://research.manchester.ac.uk/en/publications/751a9417-f137-4d24-b0b1-b26eeae8a77b
https://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path%5B%5D=385&path%5B%5D=634
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3282071/table/T1/
https://minerva-access.unimelb.edu.au/handle/11343/245751
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3282071
https://eprints.soton.ac.uk/207497/
https://findanexpert.unimelb.edu.au/scholarlywork/1395435-germline-mutations-in-the-oncogene-ezh2-cause-weaver-syndrome-and-increased-human-height
https://research.manchester.ac.uk/en/publications/751a9417-f137-4d24-b0b1-b26eeae8a77b
http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=download&path[]=385&path[]=634
https://eprints.soton.ac.uk/207497/

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Authors: Bicknell LS Bongers EMHF Leitch A et al.

Source: Nat Genet
Nature Genetics, 43, 4, pp. 356-9
Bicknell, L S, Bongers, E M H F, Leitch, A, Brown, S, Schoots, J, Harley, M E, Aftimos, S, Al-Aama, J Y, Bober, M, Brown, P A J, van Bokhoven, H, Dean, J, Edrees, A Y, Feingold, M, Fryer, A, Hoefsloot, L H, Kau, N, Knoers, N V A M, Mackenzie, J, Opitz, J M, Sarda, P, Ross, A, Temple, I K, Toutain, A, Wise, C A, Wright, M & Jackson, A P 2011, ' Mutations in the pre-replication complex cause Meier-Gorlin syndrome ', Nature Genetics, vol. 43, no. 4, pp. 356-359 . https://doi.org/10.1038/ng.775

Subject Terms: Male, 0301 basic medicine, Micrognathism/genetics, DCN 2: Functional Neurogenomics, Micrognathism, Molecular Sequence Data, Mutation, Missense, Origin Recognition Complex, Sequence Homology, Cell Cycle Proteins, Article, Ear/abnormalities, 03 medical and health sciences, IGMD 3: Genomic disorders and inherited multi-system disorders, Patella/abnormalities, Origin Recognition Complex/genetics, Genetics, Humans, Amino Acid Sequence, Frameshift Mutation, Growth Disorders, Congenital Microtia, DNA Primers, Cell Cycle Proteins/genetics, DNA Primers/genetics, 0303 health sciences, Base Sequence, NCMLS 6: Genetics and epigenetic pathways of disease IGMD 9: Renal disorder, IGMD 9: Renal disorder, Nuclear Proteins, Ear, Growth Disorders/genetics, Patella, Pedigree, Nuclear Proteins/genetics, Amino Acid, Phenotype, Haplotypes, Mutation, Female, Missense

File Description: application/pdf

Access URL: https://europepmc.org/articles/pmc3068194?pdf=render
https://pubmed.ncbi.nlm.nih.gov/21358632
https://research.rug.nl/en/publications/dfb6cade-f63a-410b-b2bc-b1a9ff067012
https://doi.org/10.1038/ng.775
https://hdl.handle.net/11370/dfb6cade-f63a-410b-b2bc-b1a9ff067012
https://www.nature.com/articles/ng.775
https://www.kau.edu.sa/Files/140/Researches/59549_29886.pdf
https://pubmed.ncbi.nlm.nih.gov/21358632/
https://www.nature.com/ng/journal/v43/n4/full/ng.775.html
https://repository.ubn.ru.nl/handle/2066/97141
https://www.nature.com/articles/ng.775.pdf
https://hdl.handle.net/2066/97141
https://repository.ubn.ru.nl//bitstream/handle/2066/97141/97141.pdf
https://www.pure.ed.ac.uk/ws/files/8325105/Mutations_in_the_pre_replication_complex_cause_Meier_Gorlin_syndrome.pdf
https://hdl.handle.net/20.500.11820/490a75d5-f347-48b2-b69d-78b9170cef52

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1

Authors: D'haene, B Hellemans, Jan Craen, Margarita et al.

Contributors: D'haene, B Hellemans, Jan Craen, Margarita et al.

Source: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Subject Terms: 0301 basic medicine, DNA Copy Number Variations, GROWTH-HORMONE TREATMENT, Genetics & genetic processes, HAPLOINSUFFICIENCY, DNA/genetics, GUIDELINES, LERI-WEILL DYSCHONDROSTEOSIS, Cohort Studies, Génétique & processus génétiques, 03 medical and health sciences, Chromosomes, Human, X/genetics, Short Stature Homeobox Protein, Medicine and Health Sciences, Humans, Computer Simulation, DOWNSTREAM, EMC MGC-02-96-01, Mutation/physiology, Growth Disorders, DNA Primers, Homeodomain Proteins, Chromosomes, Human, X, 0303 health sciences, Body Height/genetics, Reverse Transcriptase Polymerase Chain Reaction, Research Support, Non-U.S. Gov't, Gene Amplification, RAPID DETECTION, Growth Disorders/genetics, DNA, GENE, Life sciences, Body Height, 3. Good health, DELETIONS, DEFICIENCY, PCR, Phenotype, Mutation, Sciences du vivant, Cohort studies, mutation, Homeodomain Proteins/genetics

File Description: application/pdf

Access URL: https://academic.oup.com/jcem/article-pdf/95/6/3010/9069638/jcem3010.pdf
https://pubmed.ncbi.nlm.nih.gov/20375215
https://pure.eur.nl/en/publications/fe160bca-b190-4277-89c1-b1a46441d9ff
https://doi.org/10.1210/jc.2009-2218
https://academic.oup.com/jcem/article/95/6/3010/2598880
https://biblio.ugent.be/publication/1002378
https://www.ncbi.nlm.nih.gov/pubmed/20375215
https://core.ac.uk/display/13324201
https://orbi.uliege.be/handle/2268/82981
https://www.narcis.nl/publication/RecordID/oai:repub.eur.nl:27393
https://hdl.handle.net/2268/82981
https://doi.org/10.1210/jc.2009-2218
https://hdl.handle.net/20.500.14017/7f7e4e1b-a5b7-4de0-ac8c-6872ffd61862
https://doi.org/10.1210/jc.2009-2218
https://biblio.vub.ac.be/vubir/(7f7e4e1b-a5b7-4de0-ac8c-6872ffd61862).html
https://biblio.ugent.be/publication/1002378
http://doi.org/10.1210/jc.2009-2218
https://biblio.ugent.be/publication/1002378/file/1002425
http://hdl.handle.net/1854/LU-1002378

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Authors: Emiel Baten Johannes F.W. Weigel Yves Gillerot et al.

Contributors: Emiel Baten Johannes F.W. Weigel Yves Gillerot et al.

Source: The American Journal of Human Genetics. 86:434-439

Subject Terms: Male, 0301 basic medicine, mice, Foot Deformities, Congenital, Limb Deformities, Congenital, Mutation, Missense, Chick Embryo, Mice, 03 medical and health sciences, Foot Deformities, Congenital/genetics, Parathyroid Hormone-Related Protein/deficiency, Genetics, Point Mutation, Recombinant Proteins/genetics, Animals, Humans, Genetics(clinical), Cells, Cultured, Growth Disorders, Sequence Deletion, Genes, Dominant, Mice, Knockout, 0303 health sciences, Parathyroid Hormone-Related Protein, Limb Deformities, Congenital/genetics, Growth Disorders/genetics, Pedigree, Disease Models, Animal, Phenotype, Hand Deformities, Congenital/genetics, Codon, Nonsense, Mutation, Female, mutation, Hand Deformities, Congenital

Access URL: http://www.cell.com/article/S0002929710000273/pdf
https://pubmed.ncbi.nlm.nih.gov/20170896
http://www.cell.com/ajhg/pdf/S0002-9297(10)00027-3.pdf
https://www.pubmedcentral.nih.gov/pmc/articles/PMC2833367/
https://core.ac.uk/display/45792706
https://www.cell.com/ajhg/fulltext/S0002-9297(10)00027-3
https://pure.mpg.de/pubman/faces/ViewItemOverviewPage.jsp?itemId=item_1583852
https://www.ncbi.nlm.nih.gov/pubmed/20170896
https://biblio.vub.ac.be/vubir/deletion-and-point-mutations-of-pthlh-cause-brachydactyly-type-e(3c28bab2-bc6b-4324-8e66-bc9b8ae4c6d4).html

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

Authors: Scott, Richard H. Douglas, J. Baskcomb, L. et al.

Source: Scott, R H, Douglas, J, Baskcomb, L, Nygren, A O, Birch, J M, Cole, T R, Cormier-Daire, V, Eastwood, D M, Garcia-Minaur, S, Lupunzina, P, Tatton-Brown, K, Bliek, J, Maher, E R & Rahman, N 2008, 'Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation', Journal of Medical Genetics, vol. 45, no. 2, pp. 106-113. https://doi.org/10.1136/jmg.2007.053207

Subject Terms: Chromosome Aberrations, Male, 0301 basic medicine, Beckwith-Wiedemann Syndrome, Chromosomes, Human, Pair 11, Gene Dosage, Molecular Probe Techniques, DNA Methylation, Chromosomes, Pair 11/ genetics, Epigenesis, Genetic, Genomic Imprinting, 03 medical and health sciences, Genetic, Humans, Growth Disorders/ genetics, Female, Beckwith-Wiedemann Syndrome/genetics, Nucleic Acid Amplification Techniques, Growth Disorders, Chromosomes, Human, Pair 11/ genetics, Human, Epigenesis, Microsatellite Repeats

Access URL: https://pubmed.ncbi.nlm.nih.gov/18245390
https://pubmed.ncbi.nlm.nih.gov/18245390/
https://europepmc.org/abstract/MED/18245390
https://jmg.bmj.com/content/jmedgenet/early/2007/10/15/jmg.2007.053207.full.pdf?jmg_2007_053207v1=&legid=jmedgenet%3Bjmg.2007.053207v1
https://www.escholar.manchester.ac.uk/uk-ac-man-scw:219168
https://jmg.bmj.com/lookup/doi/10.1136/jmg.2007.053207
https://www.ncbi.nlm.nih.gov/pubmed/18245390

Rôle de l’épigénétique dans le diabète et la croissance

Authors: Schwitzgebel Luscher, Valérie

Source: Revue médicale suisse, Vol. 3, No 100 (2007) pp. 533,535-7

Subject Terms: ddc:618, Diabetes Mellitus/genetics, Infant, Newborn, Humans, Growth Disorders/genetics, Epigenesis, Genetic, 3. Good health

File Description: application/pdf

Access URL: https://archive-ouverte.unige.ch/unige:44503

Possible isochromosome 22 leading to trisomy 22

Authors: Manasse, B F Pfaffenzeller, W M Gurtunca, N et al.

Contributors: Manasse, B F Pfaffenzeller, W M Gurtunca, N et al.

Source: American Journal of Medical Genetics. 95:411-414

Subject Terms: 0301 basic medicine, Adult, Heart Septal Defects, Ventricular, Male, Chromosomes, Human, Pair 22, Heart Septal Defects, Ventricular/genetics, Trisomy, Heart Septal Defects, Atrial, 03 medical and health sciences, Monosomy, Pregnancy, Abnormalities, Multiple/genetics, Humans, Abnormalities, Multiple, Heart Septal Defects, Atrial/genetics, Genitalia, Female/abnormalities, Growth Disorders, Ultrasonography, 0303 health sciences, Infant, Newborn, Growth Disorders/genetics, Isochromosomes/genetics, ultrasonography, Genitalia, Female, Face/abnormalities, Trisomy/genetics, Isochromosomes, Pregnancy Complications, Phenotype, Face, Karyotyping, Female, pregnancy, Chromosomes, Human, Pair 22/genetics

Access URL: https://pubmed.ncbi.nlm.nih.gov/11146458
https://www.ncbi.nlm.nih.gov/pubmed/11146458
https://researchportal.vub.be/en/publications/possible-isochromosome-22-leading-to-trisomy-22

Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection

Authors: Notohamiprodjo, M Chen, Z Grebe, TA et al.

Source: American Journal of Medical Genetics. 71:160-166

Subject Terms: 0301 basic medicine, Male, Translocation, Dna Probes, Craniofacial Abnormalities - Genetics, Chromosomes, Human, Pair 1 - Genetics - Ultrastructure, Chromosomes, Pair 1 - Genetics - Ultrastructure, Fluorescence, Translocation, Genetic, Craniofacial Abnormalities, 03 medical and health sciences, Genetic, Pregnancy, Prenatal Diagnosis, Humans, Chromosomes, Human, Pair 4 - Genetics - Ultrastructure, Abnormalities, Multiple, 10. No inequality, In Situ Hybridization, Growth Disorders, In Situ Hybridization, Fluorescence, Metaphase, Growth Disorders - Genetics, Chromosome Aberrations, 0303 health sciences, Abnormalities, Multiple - Genetics, Infant, Newborn, Infant, Chromosome Mapping, Syndrome, Newborn, Fetal Diseases - Genetics, Chromosome Banding, Pedigree, Fetal Diseases, Chromosomes, Human, Pair 1, Karyotyping, Multiple - Genetics, Female, Abnormalities, Pair 4 - Genetics - Ultrastructure, Chromosomes, Human, Pair 4, DNA Probes, Human

Access URL: https://pubmed.ncbi.nlm.nih.gov/9217215
https://europepmc.org/article/MED/9217215
https://onlinelibrary.wiley.com/doi/10.1002/%28SICI%291096-8628%2819970808%2971%3A2%3C160%3A%3AAID-AJMG8%3E3.0.CO%3B2-1
https://mdanderson.elsevierpure.com/en/publications/maternal-balanced-translocation-leading-to-partial-duplication-of
http://www.ncbi.nlm.nih.gov/pubmed/9217215
https://mdanderson.influuent.utsystem.edu/en/publications/maternal-balanced-translocation-leading-to-partial-duplication-of
https://jhu.pure.elsevier.com/en/publications/maternal-balanced-translocation-leading-to-partial-duplication-of-3
http://hdl.handle.net/10722/150726