Karin Buiting
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View article: Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age Open
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney dise…
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Cover Open
The cover image is based on the Original Article Beckwith‐Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature by Hela Sassi et al., https://doi.org/10.1002/mgg3.1796. [Image…
View article: Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature Open
Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration a…
View article: Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A Open
Pseudohypoparathyroidism 1A (PHP1A) consists of signs of Albright hereditary osteodystrophy (AHO) and multiple, variable hormonal resistances. Elevated PTH levels are the biochemical hallmark of the disease. Short stature in PHP1A may be c…
View article: The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders Open
Temple syndrome (TS14) is a rare imprinting disorder caused by genetic and epigenetic alterations on chromosome 14q32. A subset of these patients shows an imprinting defect (ID) where the paternal allele harbors a maternal epigenotype thus…
View article: Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring Open
Background Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a small number of mammalian genes. Genetic, epigenetic or environmental insults that prevent imprints from evad…
View article: Molecular and clinical studies in 8 patients with Temple syndrome
Molecular and clinical studies in 8 patients with Temple syndrome Open
Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre‐ and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature wit…
View article: Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására
Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására Open
Introduction: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader–Willi syndrome. Aim: Our aim…
View article: The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism? Open
Background Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance…
View article: Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains Open
The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs). However, co…
View article: Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains Open
The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs). However, co…