Publications by authors named "Simona Bucerzan"

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Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on c.922A>G Variant and Phenotypic Spectrum.
Florina Victoria Nazarie, Diana Miclea, Crina Șufană, Alina Botezatu, Radu Anghel Popp, Simona Bucerzan

Diagnostics (Basel)· October 2025

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Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability.
Diana Miclea, Sergiu Osan, Simona Bucerzan, Delia Stefan, Radu Popp

Ital J Pediatr· December 2022

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Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.
Diana Miclea, Camelia Alkhzouz, Simona Bucerzan, Paula Grigorescu-Sido, Radu Anghel Popp

Diagnostics (Basel)· November 2021

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Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability.
Diana Miclea, Adriana Szucs, Andreea Mirea, Delia-Maria Stefan, Florina Nazarie, Simona Bucerzan

Int J Gen Med· August 2021

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Genetic testing in pediatric endocrine pathology.
Diana Miclea, Camelia Alkhzouz, Simona Bucerzan, Paula Grigorescu-Sido

Med Pharm Rep· August 2021

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Diagnostic, treatment and outcome possibilities in achondroplasia.
Simona Bucerzan, Camelia Alkhzouz, Mirela Crisan, Diana Miclea, Carmen Asavoaie

Med Pharm Rep· August 2021

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Cardiovascular manifestations in Marfan syndrome.
Cecilia Lazea, Simona Bucerzan, Mirela Crisan, Camelia Al-Khzouz, Diana Miclea

Med Pharm Rep· August 2021

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Early clinical signs in lysosomal diseases.
Camelia Alkhzouz, Diana Miclea, Simona Bucerzan, Cecilia Lazea, Ioana Nascu

Med Pharm Rep· August 2021

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46,XX DSD: Developmental, Clinical and Genetic Aspects.
Camelia Alkhzouz, Simona Bucerzan, Maria Miclaus, Andreea-Manuela Mirea, Diana Miclea

Diagnostics (Basel)· July 2021

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Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).
Cecilia Lazea, Simona Bucerzan, Camelia Al-Khzouz, Anca Zimmermann, Ștefan Cristian Vesa

Diagnostics (Basel)· May 2021

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Skeletal Abnormalities and VDR1 Gene Polymorphisms in Mucopolysaccharidosis Patients.
Camelia Alkhzouz, Georgiana Cabau, Cecilia Lazea, Carmen Asavoaie, Simona Bucerzan

Pharmgenomics Pers Med· March 2021

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16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature.
Simona Bucerzan, Diana Miclea, Cecilia Lazea, Carmen Asavoaie, Andrea Kulcsar

Front Pediatr· July 2020

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Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability.
Diana Micleaa, Camelia Al-Khzouza, Sergiu Osan, Simona Bucerzan, Victoria Cret

J Pediatr Endocrinol Metab· July 2019

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Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.
Anca Zimmermann, Radu A Popp, Heidi Rossmann, Simona Bucerzan, Ioana Nascu

Ther Clin Risk Manag· October 2018

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Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).
Simona Bucerzan, Diana Miclea, Radu Popp, Camelia Alkhzouz, Cecilia Lazea

Ther Clin Risk Manag· May 2017

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Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants.
Anca Zimmermann, Radu A Popp, Camelia Al-Khzouz, Simona Bucerzan, Ioana Naşcu

J Gastrointestin Liver Dis· December 2016

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Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu, Eva Kiss

JIMD Rep· June 2016

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Ultrasonographic evaluation of the median nerve at the level of the carpal tunnel outlet and mid forearm in patients with type II Mucopolysaccharidosis.
Corina Bocsa, Carmen Asavoaie, Simona Bucerzan, Ioana Nascu, Irina Brumboiu

Med Ultrason· March 2016

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A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.
Anca Zimmermann, Heidi Rossmann, Simona Bucerzan, Paula Grigorescu-Sido

Case Rep Genet· February 2016

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Osteoarthropathy in mucopolysaccharidosis type II.
Ioana Nascu, Paula Grigorescu-Sido, Camelia Al-Khzouz, Simona Bucerzan, Carmencita Denes

Clujul Med· November 2015

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The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.
Cecilia Lazea, Paula Grigorescu-Sido, Radu Popp, Marie Legendre, Serge Amselem, Simona Bucerzan

J Pediatr Endocrinol Metab· September 2015

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Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.
Anca Zimmermann, Paula Grigorescu-Sido, Heidi Rossmann, Karl J Lackner, Cristina Drugan, Simona Bucerzan

J Inherit Metab Dis· May 2013

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Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Anca Zimmermann, Paula Grigorescu-Sido, Camelia AlKhzouz, Karen Patberg, Simona Bucerzan

Horm Res Paediatr· November 2010

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Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
Paula Grigorescu-Sido, Cristina Drugan, Camelia Alkhzouz, Anca Zimmermann, Cristina Coldea, Simona Bucerzan

Eur J Intern Med· April 2010

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