A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)

Autor: Nadine Bachmann, Nevenka Laban, Carsten Bergmann, Momir Polenakovic, Zoran Gucev, Aleksandra Janchevska, Velibor Tasic

Publikováno v: PRILOZI. 39:131-135

Objectives: Molecular characterization of a patient with BWS. Clinical presentation and intervention: A 4-year-old boy with overgrowth (weight above 99th and height at 99th percentile) had longitudinal hemihypertrophy of the tongue and left cheek. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b44c59241cf3ddf95e23062395e4af7
https://doi.org/10.2478/prilozi-2018-0052

IGF1R Gene Alterations in Small for Gestational Age (SGA) Children

Autor: Aleksandar Dimovski, Aleksandra Janchevska, Zoran Gucev, Kristina Mironska, Velibor B. Tasic

Publikováno v: Open Access Macedonian Journal of Medical Sciences, Vol 6, Iss 5, Pp 790-793 (2018)
Open Access Macedonian Journal of Medical Sciences
Open Access Macedonian Journal of Medical Sciences; Vol 6 No 5 (2018): May 20 (OAMJMS); 790-793
Open Access Macedonian Journal of Medical Sciences; Vol 6, No 5 (2018): May 20 (OAMJMS); 790-793

BACKGROUND: Small for gestational age children (SGA) is born on term with BW and or BL of -2.0 standard deviation score (SDS). SGA children have an increased risk of being short, developing DM, and cardiovascular and cerebrovascular disease. Often de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8771bab87bccb4ee1bb4037b9cccd24a
https://doi.org/10.3889/oamjms.2018.209

P429 Gitelman Syndrome – Report of the first pediatric patient from Macedonia

Autor: Aleksandra Janchevska, Velibor Tasic, Olivera Jordanova, Zoran Gucev, Emma Ashton, Detlef Bockenhauer

Publikováno v: Abstracts.

Background and aims Gitelman syndrome (GS) is a rare renal channelopathy with an autosomal recessive type of inheritance, caused by homozygous or compound heterozygous mutations in SLC12A3 gene. The disorder causes metabolic abnormalities and may be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8948498f96f4df2ff1fb14b42499a9f7
https://doi.org/10.1136/archdischild-2019-epa.765

IGF1R GENE ALTERATIONS IN CHILDREN BORN SMALL FOR GESTATIONAL AGE (SGA)

Autor: Aleksandra JANCHEVSKA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::95bdd576ecad0524d6dd39cee622ad9f
https://doi.org/10.26226/morressier.5b5f433cb56e9b005965b852

X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy

Autor: Marina Krstevska-Konstantinova, Zoran Gucev, Aleksandra Janchevska, Velibor Tasic, Hae Il Cheong

Publikováno v: Balkan Journal of Medical Genetics
Balkan Journal of Medical Genetics, Vol 17, Iss 2, Pp 81-85 (2014)

Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ab9a4b6bf1f0f2c323f99d102c5b2b
http://europepmc.org/articles/PMC4413446