List of works - Peter Kroisel

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

scientific article published on 01 March 2007

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides

scientific article published on 03 March 2020

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

scientific article published on 22 December 2016

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

scientific article

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

scientific article

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

scientific article

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease

scientific article

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

scientific article published on 01 August 2004

Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry

scientific article

Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry

scientific article published in September 2003

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

scientific article published on 28 November 2005

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

scientific article published on 14 January 2014

Human chromosome 7: DNA sequence and biology

scientific article

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

scientific article published on 17 October 2006

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies

scientific article published on 24 April 2003

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus

scientific article published in March 2003

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

scientific article published on 27 December 2011

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

scientific article published on 22 May 2020

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

scientific article published in January 2007

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

scientific article published on 22 January 2021

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

scientific article published on 20 December 2005

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection

scientific article published on 01 March 2002

Problems in detecting mosaic DNA methylation in Angelman syndrome

scientific article published on 01 December 2003

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

scientific article

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

scientific article published on 31 January 2007

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

scientific article

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report

scientific article published in November 2005

List of works by Peter Kroisel

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry

Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

Human chromosome 7: DNA sequence and biology

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection

Problems in detecting mosaic DNA methylation in Angelman syndrome

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report