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1. Full Text Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva
by Gucev, Zoran and Tasic, Velibor and Plaseska‐Karanfilska, Dijana and Dimishkovska, Marija and Laban, Nevenka and Bozinovski, Zoran and Kostovski, Marko and Saveski, Alek and Polenakovic, Momir and Towler, O. Will and Shore, Eileen M and Kaplan, Frederick S
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1310 - 1314
ACVR1 | heterotopic ossification | malformed digits | fibrodysplasia ossificans progressiva | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic engineering | Knee | Alopecia | Nails | Scalp | Cognitive ability | Myositis ossificans | Ossification (ectopic) | Index Medicus
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2. Full Text Cover Image, Volume 179A, Number 7, July 2019
by Gucev, Zoran and Tasic, Velibor and Plaseska-Karanfilska, Dijana and Dimishkovska, Marija and Laban, Nevenka and Bozinovski, Zoran and Kostovski, Marko and Saveski, Alek and Polenakovic, Momir and Towler, O. Will and Shore, Eileen M and Kaplan, Frederick S
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7
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3. Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors
by Tasic, Velibor and Gucev, Zoran
Pediatric endocrinology reviews : PER, ISSN 1565-4753, 09/2015, Volume 13, Issue 1, pp. 468 - 476
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Nephrolithiasis - metabolism | Genetic Testing | Nephrocalcinosis - genetics | Nephrocalcinosis - metabolism | Humans | High-Throughput Nucleotide Sequencing | Kidney Diseases - complications | Nephrolithiasis - genetics | Child
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4. Full Text P429 Gitelman Syndrome – Report of the first pediatric patient from Macedonia
by Janchevska, Aleksandra and Tasic, Velibor and Jordanova, Olivera and Gucev, Zoran and Ashton, Emma and Bockenhauer, Detlef
Archives of disease in childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A324
EKG | Pediatrics | Channelopathy | EEG | Dietary supplements | Childrens health | Heredity | Metabolism | Patients | Hypocalciuria | Hypokalemia | Thyroid hormones | Mutation | Magnesium | Parathyroid | Hypomagnesemia | Alkalosis | Thyroid
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5. Full Text TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
by Wu, Zhihong and Wu, Nan and Ming, Xuan and Ming, Yue and Xiao, Jianqiu and Chen, Yulin and Chen, Jun and Chen, Xiaoli and Shinawi, Marwan and Shen, Yiping and Shen, Jianxiong and Shen, Joseph and Yu, Guangju and Liu, Zhenlei and Liu, Pengfei and Liu, Chunyu and Liu, Sen and Liu, Jiaqi and Xie, Hua and Gucev, Zoran S and Yang, Nan and Al-Kateb, Hussam and Zhang, Feng and Zhang, Jianguo and Zhang, Xue and Zhang, Cheng and Zhang, Jian and Zhang, Ting and Hauser, Natalie and Tasic, Velibor and Su, Xinlin and Pan, Xuedong and Wang, Hongyan and Wang, Liwen and Wang, Yipeng and Wang, Jiucun and Wang, Qiqi and Wang, Jun and Choy, Kwong Wai and Li, Shugang and Zhou, Weichen and Guo, Jin and Zhao, Hong and Zhao, Yu and An, Yu and Zuo, Yuzhi and Tian, Ye and Weng, Xisheng and Sutton, V. Reid and Kulkarni, Shashikant and Zhong, Tao P and Giampietro, Philip F and Dunwoodie, Sally L and Cheung, Sau Wai and Jin, Li and Lupski, James R and Qiu, Guixing
The New England journal of medicine, ISSN 0028-4793, 01/2015, Volume 372, Issue 4, pp. 341 - 350
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Sequence Deletion | Genetic Predisposition to Disease | Scoliosis - genetics | Humans | Asian Continental Ancestry Group - genetics | Child, Preschool | Genotype | Male | T-Box Domain Proteins - genetics | DNA Copy Number Variations | Radiography | Phenotype | Spine - diagnostic imaging | Pedigree | Adolescent | Chromosomes, Human, Pair 16 | Female | Mutation | Child | Scoliosis - congenital | Scoliosis - diagnostic imaging | Hemoglobin | Research | Scoliosis | Patients | Health aspects | Risk factors | Haplotypes | Phenotypes | Vertebrae | Congenital diseases | Genes | Vertebra | Heredity | Hybridization | Gene deletion | Genetic counseling | Alleles | Replication | DNA sequencing | Index Medicus | Abridged Index Medicus
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6. Full Text Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
by Lindhurst, Marjorie J and Parker, Victoria E. R and Payne, Felicity and Sapp, Julie C and Rudge, Simon and Harris, Julie and Witkowski, Alison M and Zhang, Qifeng and Groeneveld, Matthijs P and Scott, Carol E and Daly, Allan and Huson, Susan M and Tosi, Laura L and Cunningham, Michael L and Darling, Thomas N and Geer, Joseph and Gucev, Zoran and Sutton, V Reid and Tziotzios, Christos and Dixon, Adrian K and Helliwell, Timothy and O'Rahilly, Stephen and Savage, David B and Wakelam, Michael J. O and Barroso, Inês and Biesecker, Leslie G and Semple, Robert K
Nature genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 928 - 933
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Bone and Bones - pathology | Humans | Hyperplasia | Middle Aged | Child, Preschool | Infant | Male | Phosphatidylinositol 3-Kinases - metabolism | Proto-Oncogene Proteins c-akt - genetics | DNA Mutational Analysis | Base Sequence | Adult | Female | Proto-Oncogene Proteins c-akt - metabolism | Child | Connective Tissue - pathology | Signal Transduction | Adipose Tissue - pathology | Bone and Bones - enzymology | Syndrome | Phosphatidylinositol 3-Kinases - genetics | Connective Tissue - enzymology | Phenotype | Class I Phosphatidylinositol 3-Kinases | Adolescent | Mosaicism | Adipose Tissue - enzymology | Mutation | Enzyme Activation - genetics | Adipose tissues | Gene mutations | Physiological aspects | Genetic aspects | Research | Protein kinases | Health aspects | Risk factors | Medical research | Cell growth | Biomedical research | Archives & records | Cell division | Genomes | Kinases | Bone surgery | Deoxyribonucleic acid--DNA | Cancer | Index Medicus
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7. Full Text Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
by Sanna-Cherchi, Simone and Kiryluk, Krzysztof and Burgess, Katelyn E and Bodria, Monica and Sampson, Matthew G and Hadley, Dexter and Nees, Shannon N and Verbitsky, Miguel and Perry, Brittany J and Sterken, Roel and Lozanovski, Vladimir J and Materna-Kiryluk, Anna and Barlassina, Cristina and Kini, Akshata and Corbani, Valentina and Carrea, Alba and Somenzi, Danio and Murtas, Corrado and Ristoska-Bojkovska, Nadica and Izzi, Claudia and Bianco, Beatrice and Zaniew, Marcin and Flogelova, Hana and Weng, Patricia L and Kacak, Nilgun and Giberti, Stefania and Gigante, Maddalena and Arapovic, Adela and Drnasin, Kristina and Caridi, Gianluca and Curioni, Simona and Allegri, Franca and Ammenti, Anita and Ferretti, Stefania and Goj, Vinicio and Bernardo, Luca and Jobanputra, Vaidehi and Chung, Wendy K and Lifton, Richard P and Sanders, Stephan and State, Matthew and Clark, Lorraine N and Saraga, Marijan and Padmanabhan, Sandosh and Dominiczak, Anna F and Foroud, Tatiana and Gesualdo, Loreto and Gucev, Zoran and Allegri, Landino and Latos-Bielenska, Anna and Cusi, Daniele and Scolari, Francesco and Tasic, Velibor and Hakonarson, Hakon and Ghiggeri, Gian Marco and Gharavi, Ali G
American journal of human genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 987 - 997
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Genetic Association Studies | Kidney Diseases - congenital | Humans | Molecular Sequence Annotation | Chromosome Aberrations | Genotype | Case-Control Studies | Kidney Diseases - genetics | DNA Copy Number Variations | Renal manifestations of general diseases | Causes of | Research | Copy number variations | Genetic variation | Genetic disorders | Congenital diseases | Kidneys | Kidney diseases | Medical diagnosis | Index Medicus
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8. Full Text TO045CLINICAL, BIOCHEMICAL AND GENETIC ASPECTS OF IDIOPATHIC HYPERCALCEMIA IN MACEDONIAN PATIENTS
by Tasic, Velibor and Gucev, Zoran and Polenakovic, Momir
Nephrology, dialysis, transplantation, ISSN 0931-0509, 05/2016, Volume 31, Issue suppl_1, pp. i80 - i81
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9. Full Text Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum
by Keppler‐Noreuil, Kim M and Sapp, Julie C and Lindhurst, Marjorie J and Parker, Victoria E.R and Blumhorst, Cathy and Darling, Thomas and Tosi, Laura L and Huson, Susan M and Whitehouse, Richard W and Jakkula, Eveliina and Grant, Ian and Balasubramanian, Meena and Chandler, Kate E and Fraser, Jamie L and Gucev, Zoran and Crow, Yanick J and Brennan, Leslie Manace and Clark, Robin and Sellars, Elizabeth A and Pena, Loren DM and Krishnamurty, Vidya and Shuen, Andrew and Braverman, Nancy and Cunningham, Michael L and Sutton, V. Reid and Tasic, Velibor and Graham, John M and Geer, Joseph and Henderson, Alex and Semple, Robert K and Biesecker, Leslie G
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
macrodactyly | fibroadipose overgrowth | somatic mosaicism | CLOVES syndrome | segmental overgrowth | PIK3CA gene | Segmental overgrowth | Macrodactyly | Somatic mosaicism | Fibroadipose overgrowth | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Lipoma - genetics | Child, Preschool | Infant | Male | Young Adult | Organ Specificity - genetics | Nevus - genetics | Hyperplasia - genetics | Adult | Female | Musculoskeletal Abnormalities - diagnosis | Hyperplasia - diagnosis | Child | Infant, Newborn | Nevus - diagnosis | Genetic Association Studies | Adipose Tissue - pathology | Genotype | Phosphatidylinositol 3-Kinases - genetics | Phenotype | Class I Phosphatidylinositol 3-Kinases | Musculoskeletal Abnormalities - genetics | Adolescent | Age of Onset | Vascular Malformations - diagnosis | Mutation | Vascular Malformations - genetics | Lipoma - diagnosis | Skin diseases | Genetic disorders | Index Medicus
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10. Full Text The Child Health Care System of Macedonia
by Tasic, Velibor, MD and Danilovski, Dragan, MD and Gucev, Zoran, MD
The Journal of pediatrics, ISSN 0022-3476, 2016, Volume 177, pp. S127 - S137
Pediatrics | reforms | children services | Life Sciences & Biomedicine | Science & Technology | Greece | Health Care Reform | Child Health Services | Humans | Child, Preschool | Child | Quality of Health Care | Hospitals | Political science | Health care reform | Medical care | Developing countries | Family | Family medicine | Children | Health aspects | Epidemiology | Quality management | Medical informatics | Index Medicus | Abridged Index Medicus
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11. Full Text Rare heterozygous GDF6 variants in patients with renal anomalies
by Martens, Helge and Hennies, Imke and Getwan, Maike and Christians, Anne and Weiss, Anna-Carina and Brand, Frank and Gjerstad, Ann Christin and Christians, Arne and Gucev, Zoran and Geffers, Robert and Seeman, Tomáš and Kispert, Andreas and Tasic, Velibor and Bjerre, Anna and Lienkamp, Soeren S and Haffner, Dieter and Weber, Ruthild G
European journal of human genetics : EJHG, ISSN 1018-4813, 12/2020, Volume 28, Issue 12, pp. 1681 - 1693
CRISPR | Vertebrae | Phenotypes | Kidneys | Allografts | Syngeneic grafts | Ureter | Hybridization | Ribonucleic acid--RNA | Cell migration | Microphthalmia | Index Medicus
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12. Full Text A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children
by Göpel, Eric and Rockstroh, Denise and Pfäffle, Heike and Schlicke, Marina and Bechtold-Dalla Pozza, Susanne and Gannagé-Yared, Marie-Hélène and Gucev, Zoran and Mohn, Angelika and Harmel, Eva-Maria and Volkmann, Julia and Weihrauch-Blüher, Susann and Gausche, Ruth and Bogatsch, Holger and Beger, Christoph and Klammt, Jürgen and Pfäffle, Roland
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 11/2019, Volume 105, Issue 4, pp. e1705 - e1717
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Statistical analysis | Growth rate | Insulin-like growth factor I | Case reports | Homeostasis | Insulin | Gestational age | Body height | Insulin resistance | Children | Mutation | Growth hormone | Small-for-gestational age | Index Medicus | Abridged Index Medicus
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