المؤلفون: Benjamin M. Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E. Minoche, Mark J. Cowley, Christopher Barnett, Janine M. Smith, To Ha Loi, Karen Wong, Luke St Heaps, Dale Wright, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 7; Pages: 3905

مصطلحات موضوعية: inherited retinal dystrophy, whole genome sequencing, gene panels, RNA analysis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23073905

الاتاحة: https://doi.org/10.3390/ijms23073905

المؤلفون: Joanne Brown, Mark Dexter, King L. Tan, Luke St Heaps, Sally Byatt, Tayyaba Khan, Najmun Nahar, Mark Wong, Winny Varikatt

المصدر: Journal of Clinical Neuroscience. 92:115-119

مصطلحات موضوعية: medicine.medical_specialty, Formalin fixed paraffin embedded, 1p/19q Codeletion, Physiology (medical), Glioma, medicine, Humans, In Situ Hybridization, Fluorescence, Frozen section procedure, medicine.diagnostic_test, Brain Neoplasms, business.industry, Brain, Fish analysis, General Medicine, medicine.disease, Isocitrate Dehydrogenase, Neurology, Fish , Surgery, Neurology (clinical), Radiology, business, Who classification, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bfabc1eee0f3b2e200f18bb0e129cfa
https://doi.org/10.1016/j.jocn.2021.07.043

المؤلفون: Cell Chromosome, Art Daniel, Luke St Heaps, Dianne Sylvester, Sara Diaz, Gregory Peters

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/ca/0f/Cell_Chromosome_2008_Mar_10_7_1.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.281.6489

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.281.6489

المؤلفون: Art Daniel, Luke St Heaps

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/df/98/Cell_Chromosome_2004_Sep_29_3_3.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.285.346

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.285.346

المؤلفون: Praveen Sharma, Dorothy Hung, Racha El-Hajj Ghaoui, Dale Wright, Luke St Heaps, Catherine Harris, Stewart J. Kellie, Sumanth Nagabushan, Oksana Mirochnik

المصدر: Cytogenetic and Genome Research. 153:181-189

مصطلحات موضوعية: Chromosomal translocation, Karyotype, Biology, Subtelomere, Molecular biology, Chromosome 17 (human), 03 medical and health sciences, Chromosome 15, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genetics, Interphase, Molecular Biology, Metaphase, Genetics (clinical), 030215 immunology, SNP array

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3118d4cf5f49808f3f68ecadca8ecdd
https://doi.org/10.1159/000487000

المؤلفون: Racha, El-Hajj Ghaoui, Luke, St Heaps, Dorothy, Hung, Sumanth, Nagabushan, Catherine, Harris, Oksana, Mirochnik, Praveen, Sharma, Stewart J, Kellie, Dale C, Wright

المصدر: Cytogenetic and genome research. 153(4)

مصطلحات موضوعية: Male, Mutagenesis, Insertional, Leukemia, Promyelocytic, Acute, Oncogene Proteins, Fusion, Chromosome Inversion, Humans, Infant, In Situ Hybridization, Fluorescence, Chromosome Banding, Chromosomes, Human, Pair 17, Immunophenotyping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::299be24bb479dd0157e0142d4fbaa891
https://pubmed.ncbi.nlm.nih.gov/29550828

المؤلفون: Ordan J. Lehmann, Ella Onikul, Luke St Heaps, James E. H. Smith, Rebecca Williams, Nicole Chia, Kenneth N. Maclean, Tim McCrossin, Gregory Peters, Lesley C. Adès

المصدر: American Journal of Medical Genetics Part A. :381-385

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Hearing loss, Biology, Corpus callosum, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Cerebellar hypoplasia, Genetics (clinical), Tooth Abnormalities, Infant, Syndrome, Microdeletion syndrome, medicine.disease, Phenotype, eye diseases, Hypoplasia, Chromosome Banding, Hydrocephalus, Face, Karyotyping, Chromosomes, Human, Pair 6, sense organs, Brainstem, Chromosome Deletion, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03743039cae58931628e7b5d1ee18f0c
https://doi.org/10.1002/ajmg.a.30274

المؤلفون: David Mowat, Dimitra Tzioumi, Suna Huseyin, Luke St Heaps, David Sillence, Katherine R. Neas, Greg B. Peters, Nicole Chia, Janine Smith, Gary F. Sholler

المصدر: American Journal of Medical Genetics Part A. :425-430

مصطلحات موضوعية: Heart Defects, Congenital, Male, Developmental Disabilities, Genetic counseling, Chromosomal anomaly, Biology, Fatal Outcome, Gene mapping, Genetics, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Infant, Chromosome, Karyotype, Telomere, Subtelomere, Phenotype, Chromosome Banding, Premature death, Face, Karyotyping, Chromosome Deletion, Chromosomes, Human, Pair 9, Respiratory Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c01dc1dbacb8aaa65b68cd70a3cf7e51
https://doi.org/10.1002/ajmg.a.30496

المؤلفون: Arabella Smith, Angela Jarvis, Praveen Sharma, Luke St. Heaps, Cecily Forsyth

المصدر: Cancer Genetics and Cytogenetics. 130:29-32

مصطلحات موضوعية: Cancer Research, medicine.diagnostic_test, Myeloid leukemia, Chromosome, Karyotype, Chromosomal translocation, Biology, medicine.disease, Molecular biology, Dicentric chromosome, Leukemia, hemic and lymphatic diseases, Chromosome 19, Genetics, medicine, Molecular Biology, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::09ed25ee4f3909cb83d4632fc9167dff
https://doi.org/10.1016/s0165-4608(01)00463-0

المؤلفون: Anna Jauch, Luke St. Heaps, Brian Kearney, Lisa Robson, Arabella Smith

المصدر: Annales de Génétique. 43:125-130

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Chromosomes, Human, Pair 22, Locus (genetics), Chromosomal translocation, T-15, Biology, Polymerase Chain Reaction, Translocation, Genetic, Intellectual Disability, Genetics, Humans, Child, Growth Disorders, In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 15, Breakpoint, Chromosome Mapping, nutritional and metabolic diseases, Chromosome, Karyotype, DNA Methylation, Chromosome Banding, Telomere, Karyotyping, Cosmid, Female, Prader-Willi Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e73b30c6519902cf440e42bd5fd7bf
https://doi.org/10.1016/s0003-3995(00)01017-0

المؤلفون: Catherine Crombie, Theresa Harvey, Arabella Smith, Luke St. Heaps, Praveen Sharma, Marcella Roman, Philippa Kirkpatrick

المصدر: Pathology. 35:90-92

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine, Fish , Biology, medicine.disease, Diffuse large B-cell lymphoma, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31346ce8eea405f34d3f75ea79da809b
https://doi.org/10.1080/00313020307516

المؤلفون: Robyn V. Jamieson, Greg B. Peters, Maree Flaherty, Patrick P.L. Tam, Marija Mihelec, John R. Grigg, Christina Rudduck, Frank A. Billson, Luke St Heaps

المصدر: Twin research and human genetics : the official journal of the International Society for Twin Studies. 11(4)

مصطلحات موضوعية: genetic structures, Biology, Bioinformatics, Microphthalmia, Cataract, Translocation, Genetic, medicine, Humans, Microphthalmos, Eye Abnormalities, Genetics (clinical), Genetics, Chromosome Aberrations, Comparative Genomic Hybridization, Anophthalmia, Genetic heterogeneity, Obstetrics and Gynecology, Anophthalmos, Glaucoma, medicine.disease, Disease gene identification, Phenotype, eye diseases, Pediatrics, Perinatology and Child Health, Eye disorder, sense organs, PAX6, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16b2e8ecc8c328bd17ba02bb9d7c96af
https://pubmed.ncbi.nlm.nih.gov/18637741

المؤلفون: Greg B. Peters, Artur Darmanian, Felicity Collins, Vinod Dagar, Luke St Heaps, Elizabeth M. Algar, Dirk Prawitt

المصدر: Cancer research. 67(5)

مصطلحات موضوعية: Male, Cancer Research, Growth, medicine.disease_cause, Wilms Tumor, Germline mutation, Genes, Y-Linked, Insulin-Like Growth Factor II, Gene Duplication, Gene duplication, medicine, Birth Weight, Humans, Family, Paternal Inheritance, Genetics, biology, medicine.diagnostic_test, Chromosomes, Human, Pair 11, Infant, Proteins, Kidney Neoplasms, Pedigree, Oncology, Insulin-like growth factor 2, biology.protein, Y linkage, Female, Carcinogenesis, Fluorescence in situ hybridization, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4361127f65507e5872c2d9ae04459e00
https://pubmed.ncbi.nlm.nih.gov/17325026

المؤلفون: Patrick P.L. Tam, Chris Willcock, Marija Mihelec, Leisha D. Nolen, Robyn V. Jamieson, John R. Grigg, Ashley Haywood, Luke St Heaps, Greg B. Peters, David J. Amor, Frank A. Billson

المصدر: American journal of medical genetics. Part A. 140(16)

مصطلحات موضوعية: Male, Pituitary gland, Biology, Microphthalmia, Contiguous gene syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 14, Anophthalmia, Anophthalmos, Nucleic Acid Hybridization, Chromosome Breakage, Ear, Syndrome, medicine.disease, Physical Chromosome Mapping, Magnetic Resonance Imaging, eye diseases, Hypoplasia, Chromosome Banding, Radiography, medicine.anatomical_structure, Pituitary Gland Hypoplasia, Child, Preschool, Karyotyping, Pituitary Gland, Chromosome breakage, Chromosome Deletion, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::817749482b338c3b5505ad4c1b461954
https://pubmed.ncbi.nlm.nih.gov/16835935

المؤلفون: Yael Livnat, Paul R. Harnett, Jennifer A. Byrne, Yoke-Eng Chiew, Dennis J. Slamon, Anna deFazio, Janelle Mercieca, Marlena S. Fejzo, Beth Y. Karlan, Rosemary L. Balleine, Gregory Peters, Karen Byth, Luke St Heaps

المصدر: International journal of cancer. 117(6)

مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, endocrine system diseases, Gene Expression, Biology, Ovarian carcinoma, Gene duplication, medicine, Biomarkers, Tumor, Humans, In Situ Hybridization, Fluorescence, Ovarian Neoplasms, Ovary, Gene Amplification, Middle Aged, medicine.disease, Immunohistochemistry, Epithelium, Neoplasm Proteins, Serous fluid, Tumor Protein D52, medicine.anatomical_structure, Oncology, CA-125 Antigen, Female, Ovarian cancer, Clear cell, Chromosomes, Human, Pair 8

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::090a404be418a9e6ed2933b3f97007bd
https://pubmed.ncbi.nlm.nih.gov/15986428

المؤلفون: Lisa Robson, Arabella Smith, Luke St. Heaps

المصدر: Annales de genetique. 45(4)

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Adolescent, Biology, Genomic Imprinting, Methylation analysis, Angelman syndrome, Genetics, UBE3A, medicine, Humans, Imprinting (psychology), Child, In Situ Hybridization, Fluorescence, Infant, Newborn, nutritional and metabolic diseases, Routine laboratory, Infant, medicine.disease, Infant newborn, nervous system diseases, Child, Preschool, Molecular Probes, Angelman Syndrome, Genomic imprinting, Prader-Willi Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0402a93ed2be7ac2b53b553f618f34c
https://pubmed.ncbi.nlm.nih.gov/12668166

المؤلفون: Nicole Graf, Susan Arbuckle, Luke St. Heaps, Bradley Webster, Amanda Charlton

المصدر: Pathology. 47:S80

مصطلحات موضوعية: medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Sampling error, medicine.disease, Dermatology, Pathology and Forensic Medicine, Clinical history, Biopsy, Vascular Neoplasm, Ki67 index, medicine, Neoplasm, Infantile Fibrosarcoma, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3d2e46daf3c516804a5631defca96ac
https://doi.org/10.1097/01.pat.0000461547.39471.cc

المؤلفون: Dale Wright, Zhanhe Wu, Man Yuk Ho, Luke St Heaps, Praveen Shama

المصدر: Pathology. 47:S87

مصطلحات موضوعية: medicine.medical_specialty, NPM1, CD33, Cytogenetics, Myeloid leukemia, Karyotype, Biology, Trisomy 8, medicine.disease, Pathology and Forensic Medicine, hemic and lymphatic diseases, Molecular genetics, Immunology, Cancer research, medicine, Trisomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e71634ddb15a4d6501a5573f08845aea
https://doi.org/10.1097/01.pat.0000461575.28276.93

المؤلفون: Lisa Robson, Arabella Smith, Luke St Heaps

المصدر: American journal of medical genetics. 113(4)

مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Chromosomes, Human, Pair 22, Chromosomal translocation, Locus (genetics), Biology, Translocation, Genetic, Gene mapping, medicine, Humans, Child, Referral and Consultation, Genetics (clinical), In Situ Hybridization, Fluorescence, Aged, Genetics, Chromosome Aberrations, Chromosomes, Human, X, medicine.diagnostic_test, Cytogenetics, Infant, Newborn, Chromosome, Infant, Karyotype, Aneuploidy, Hospital Records, Child, Preschool, Fragile X Syndrome, Medicine, Female, Chromosome Deletion, Fluorescence in situ hybridization, Specialization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6755691cdddce0b77574dd53f5380def
https://pubmed.ncbi.nlm.nih.gov/12457406

المؤلفون: Sara Diaz, Praveen Sharma, Luke St Heaps, Arabella Smith, Wade Barrett, Susan Arbuckle

المصدر: Medical and pediatric oncology. 39(1)

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Pathology, Adolescent, Cyclin D, Cyclin D1, Mucoepidermoid carcinoma, medicine, Carcinoma, Humans, Lung cancer, In Situ Hybridization, Fluorescence, Bronchus, biology, business.industry, Chromosomes, Human, Pair 11, Bronchial Neoplasms, Cytogenetics, Gene rearrangement, DNA, Neoplasm, medicine.disease, Up-Regulation, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, Oncology, Pediatrics, Perinatology and Child Health, Cytogenetic Analysis, biology.protein, Cancer research, Carcinoma, Mucoepidermoid, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c9e0f71c5d11c585dbced09b281ade
https://pubmed.ncbi.nlm.nih.gov/12116081