D. Markiewicz

Medicine · Health Sciences

20h-index7.7kcitations45works0.02yr avg
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Research Topics

Cystic Fibrosis Research Advances(32), Neonatal Respiratory Health Research(17), Tracheal and airway disorders(10), Congenital Ear and Nasal Anomalies(5), Advanced biosensing and bioanalysis techniques(4)

Publications45 total

Cystic Fibrosis Gene Mutation in Two Sisters with Mild Disease and Normal Sweat Electrolyte Levels
UNC Libraries·2021Open Access
Multiple pilomatrixomas as a presentation of myotonic dystrophy
Clinical and Experimental Dermatology·2019· 5 cited
The evolution of histopathological changes in dermatitis artefacta.
European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology·2018· 1 cited
15 Analysis of candidate genes as modifiers of Cystic Fibrosis
Journal of Cystic Fibrosis·2006· 1 citedOpen Access
7 Identification of DNA variants in non-coding regions of the CFTR gene
Journal of Cystic Fibrosis·2006
P0915 MECONIUM ILEUS IN CYSTIC FIBROSIS NEONATES IS ASSOCIATED WITH POLYMORPHIC MARKERS IN THE CALCIUM-ACTIVATED POTASSIUM CHANNEL (KCNN4) GENE
Journal of Pediatric Gastroenterology and Nutrition·2004· 4 cited
P0915 MECONIUM ILEUS IN CYSTIC FIBROSIS NEONATES IS ASSOCIATED WITH POLYMORPHIC MARKERS IN THE CALCIUM‐ACTIVATED POTASSIUM CHANNEL (KCNN4) GENE
Journal of Pediatric Gastroenterology and Nutrition·2004Open Access
CFTR Mutation Detection by Multiplex Heteroduplex (mHET) Analysis on MDE Gel
Humana Press eBooks·2003· 28 cited
Spectrum of Mutations in the <i>CFTR</i> Gene of Patients with Classical and Atypical Forms of Cystic Fibrosis from Southwestern Sweden: Identification of 12 Novel Mutations
Genetic Testing·2001· 26 cited
HOMOCYSTEINEMIA IN CYCLOSPORINE-TREATED RENAL GRAFT RECIPIENTS
Journal of Hypertension·2000
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
Nature Genetics·1999· 226 cited
Overexpression of p53 and MDM2 proteins in soft tissue tumors. The correlation with p53 gene mutations and searching for prognostic factors
European Journal of Cancer·1997
Frequency and prognostic significance of genetic instability at tumour suppressor gene loci in mamary carcinomas
European Journal of Cancer·1997
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients
Human Mutation·1997
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients
Human Mutation·1997· 5 cited
Identification of two mutations (S50Y and 4173delC) in theCFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)
Human Mutation·1997· 2 cited
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
The Journal of Pediatrics·1995· 234 cited
CFTR gene variant for patients with congenital absence of vas deferens.
PubMed·1995· 98 cited
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia
The Lancet·1995· 150 citedOpen Access
Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family
Clinical Genetics·1995· 41 cited
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Frequent Co-authors

Julian Zielenski(22), Lap‐Chee Tsui(14), N. Plavsic(12), M. Zsiga(11), Johanna M. Rommens(10), Manuel Buchwald(10), L.-C. Tsui(8), Peter R. Durie(7), Derek Kennedy(7), S. Zengerling(7), Mary Corey(6), Dominique Bozon(5), Francis S. Collins(5), Donald Kennedy(5), Batsheva Kerem(4), Richard Rozmahel(4), Isabel Aznarez(4), L.‐C. Tsui(4), L‐C Tsui(4), Petros Tsipouras(4)