M. Kirchhoff

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Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Ryan L. Collins, A. Silahtaroglu, N. Tommerup, 2018, American journal of human genetics.

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

R. Zannolli, H. Hjalgrim, M. Bak, 2012, Clinical genetics.

Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals.

C. Lundsteen, T. Gerdes, J. Maahr, 1998, Cytometry.

High resolution comparative genomic hybridisation in clinical cytogenetics

C. Lundsteen, M. Kirchhoff, H. Rose, 2001, Journal of medical genetics.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

Detection of chromosomal aberrations in seminomatous germ cell tumours using comparative genomic hybridization

C. Lundsteen, T. Gerdes, J. Philip, 1997, Genes, chromosomes & cancer.

Comparative genomic hybridization reveals non-random chromosomal aberrations in early preinvasive cervical lesions.

C. Lundsteen, T. Gerdes, J. Philip, 2001, Cancer genetics and cytogenetics.

A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome

S. Kjaergaard, M. Kirchhoff, K. Brøndum‐Nielsen, 2009, Journal of Medical Genetics.

Application of aCGH Analysis in Patients with Primary Immunodeficiency of Unknown Genetic Origin – Identification of Atypical SAP Deficiency and Coronin-1a Deficiency

H. Marquart, S. Kjaergaard, M. Kirchhoff, 2014 .

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

A. Stray-Pedersen, A. Rauch, S. Kjaergaard, 2014, American journal of medical genetics. Part A.

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy.

L. Ousager, S. Kjaergaard, M. Kirchhoff, 2012, European journal of medical genetics.

Maintenance of EGFR and EGFRvIII expressions in an in vivo and in vitro model of human glioblastoma multiforme.

T. Gerdes, M. Kosteljanetz, M. Kirchhoff, 2011, Experimental cell research.

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

J. Barber, C. Lundsteen, N. S. Thomas, 2005, European Journal of Human Genetics.

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

H. Ropers, V. Kalscheuer, A. Tzschach, 2010, European Journal of Human Genetics.

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

S. Gallati, L. Biesecker, J. Hurst, 2011, European Journal of Human Genetics.

Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions

S. Kjaergaard, M. Kirchhoff, K. Wadt, 2012, Prenatal diagnosis.

Comparative genomic hybridization in clinical cytogenetics.

C. Lundsteen, T. Gerdes, J. Philip, 1995, American journal of human genetics.

CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): a case.

M. Kirchhoff, C. Nielsen, L. Ryder, 2012, Human immunology.

Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome

P. Stankiewicz, J. Lupski, A. Silahtaroglu, 2004, American journal of medical genetics. Part A.

Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome

M. Kirchhoff, T. Bryndorf, A. Bisgaard, 2006, American journal of medical genetics. Part A.

Development of large-scale manufacturing of adipose-derived stromal cells for clinical applications using bioreactors and human platelet lysate

J. Kastrup, M. Kirchhoff, M. Haack-Sørensen, 2018, Scandinavian journal of clinical and laboratory investigation.

Heart defects and other features of the 22q11 distal deletion syndrome.

L. Ousager, M. Kirchhoff, C. Fagerberg, 2013, European journal of medical genetics.

Duplication or amplification of chromosome band 11q23, including the unrearranged MLL gene, is a recurrent abnormality in therapy‐related MDS and AML, and is closely related to mutation of the TP53 gene and to previous therapy with alkylating agents

M. Andersen, J. Pedersen‐Bjergaard, M. Kirchhoff, 2001, Genes, chromosomes & cancer.

Flow Cytometric DNA index, G-band Karyotyping, and Comparative Genomic Hybridization in Detection of High Hyperdiploidy in Childhood Acute Lymphoblastic Leukemia

I. Christensen, J. Larsen, K. Schmiegelow, 2006, Journal of pediatric hematology/oncology.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

C. Lundsteen, M. Kirchhoff, M. Rethoré, 2004, American journal of medical genetics. Part A.

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

T. Gerdes, M. Kirchhoff, T. Bryndorf, 2007, European journal of medical genetics.

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.

M. Schwartz, M. Duno, M. Kirchhoff, 2007, European journal of medical genetics.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.

M. Kirchhoff, H. Hove, Ann-Britt Kiholm Lund, 2008, European journal of medical genetics.

Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata

M. Kirchhoff, T. Bryndorf, A. Bisgaard, 2007, Clinical dysmorphology.

Pooled human platelet lysate versus fetal bovine serum-investigating the proliferation rate, chromosome stability and angiogenic potential of human adipose tissue-derived stem cells intended for clinical use.

K. Drzewiecki, M. Kirchhoff, R. Oliveri, 2013, Cytotherapy.

Report of two cases of infantile spasms caused by a de novo deletion in the STXBP1 gene

P. Uldall, S. Kjaergaard, M. Kirchhoff, 2015 .

Enrichment of autologous fat grafts with ex-vivo expanded adipose tissue-derived stem cells for graft survival: a randomised placebo-controlled trial

J. Kastrup, K. Drzewiecki, M. Kirchhoff, 2013, The Lancet.

Comparison of clinical grade human platelet lysates for cultivation of mesenchymal stromal cells from bone marrow and adipose tissue

J. Kastrup, M. Kirchhoff, Morten Juhl, 2016, Scandinavian journal of clinical and laboratory investigation.

Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

S. Kreiborg, A. Bayat, M. Kirchhoff, 2018, European journal of medical genetics.

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

V. Kalscheuer, C. Menzel, R. Ullmann, 2006, Cytogenetic and Genome Research.

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation

S. Kjaergaard, M. Kirchhoff, V. Larsen, 2015, American journal of medical genetics. Part A.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

L. Faivre, C. Thauvin-Robinet, S. Kjaergaard, 2013, American journal of medical genetics. Part A.

The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma

C. Lundsteen, M. Kirchhoff, T. Bryndorf, 2004, Cytogenetic and Genome Research.

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion

K. Devriendt, M. Schwartz, M. Duno, 2004, Human Genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

J. Fryns, M. Kirchhoff, C. Fagerberg, 2009, American journal of medical genetics. Part A.

Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced‐stage cervical carcinoma

C. Lundsteen, T. Gerdes, J. Philip, 1999, Genes, chromosomes & cancer.

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

S. Kreiborg, A. Bayat, M. Kirchhoff, 2017, Clinical dysmorphology.

Familial craniosynostosis associated with a microdeletion involving the NFIA gene

S. Kreiborg, M. Kirchhoff, H. Hove, 2015, Clinical dysmorphology.

Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

I. M. Schmidt, P. Zipfel, H. Marquart, 2011, Genes and Immunity.

Transmitted duplication of 12q21.32–12q22 includes 48 genes and has no apparent phenotypic consequences

J. Barber, N. S. Thomas, M. Kirchhoff, 2007, American journal of medical genetics. Part A.

Further delineation of the 22q13 deletion syndrome

C. Lundsteen, N. Tommerup, M. Kirchhoff, 2005, Clinical dysmorphology.

Multiplex ligation‐dependent probe amplification (MLPA) in prenatal diagnosis—experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

T. Gerdes, S. Kjaergaard, M. Kirchhoff, 2008, Prenatal diagnosis.

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.

S. Kjaergaard, M. Kirchhoff, E. Wohlleber, 2011, European journal of medical genetics.

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

R. Ullmann, M. Kirchhoff, F. Skovby, 2007, European journal of medical genetics.

High‐resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemia

C. Lundsteen, K. Schmiegelow, M. Kirchhoff, 2003, European journal of haematology.

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

T. Gerdes, S. Kjaergaard, M. Kirchhoff, 2010, Prenatal diagnosis.

Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals

C. Lundsteen, T. Gerdes, J. Maahr, 1999, Genes, chromosomes & cancer.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

R. Pfundt, J. Gécz, M. Stratton, 2010, American journal of medical genetics. Part A.

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

Z. Tümer, N. Tommerup, M. Kirchhoff, 2006, American journal of medical genetics. Part A.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

S. Kjaergaard, M. Kirchhoff, S. Zeesman, 2012, American journal of medical genetics. Part A.

Polydactyly in a boy with Smith–Magenis syndrome

M. Kirchhoff, Lisbeth Mariannejensen, 2005, Clinical dysmorphology.

Comparative GenomicHybridization inClinical Cytogenetics

M. Kirchhoff, B. Christensen, 1995 .

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome

Z. Tümer, N. Tommerup, H. Ropers, 2007, European Journal of Human Genetics.

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

A. Bayat, M. Kirchhoff, G. Nishimura, 2020, Molecular Syndromology.

Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplication

Tommy Gerdes, T. Gerdes, M. Kirchhoff, 2005, American journal of medical genetics. Part A.

Prospective study comparing HR‐CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR‐CGH

C. Lundsteen, E. Kjeldsen, S. Kolvraa, 2004, American journal of medical genetics. Part A.

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

C. Lundsteen, T. Gerdes, Z. Tümer, 2000, European Journal of Human Genetics.

[Chromosome aberrations in mentally retarded and dysmorphic patients with normal karyotypes].

C. Lundsteen, E. Kjeldsen, S. Kolvraa, 2004, Ugeskrift for laeger.

Automatic analysis of multiplex ligation‐dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection)

Tommy Gerdes, T. Gerdes, M. Kirchhoff, 2005, Electrophoresis.

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

C. Lundsteen, T. Gerdes, M. Schwartz, 2005, European Journal of Human Genetics.

Increased nuchal translucency with normal karyotype: a follow‐up study of 100 cases supplemented with CGH and MLPA analyses

M. Kirchhoff, K. Sundberg, C. Jørgensen, 2009, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

M. Schwartz, E. Christensen, M. Kirchhoff, 2009, Clinical genetics.

Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis.

C. Lundsteen, T. Gerdes, J. Maahr, 1997, Cytometry.

Improved Sensitivity in Comparative Genomic Hybridization Analysis of DNA Heteroploid Cell Mixtures after Pre-Enrichment of Subpopulations by Fluorescence Activated Cell Sorting

C. Lundsteen, T. Gerdes, J. Larsen, 1999, Analytical Cellular Pathology.

High Resolution Comparative Genomic Hybridization Detects 7–8 Megabasepair Deletion in PCR Amplified DNA1

C. Lundsteen, J. Larsen, M. Kirchhoff, 2001, Analytical cellular pathology : the journal of the European Society for Analytical Cellular Pathology.

Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced-stage cervical carcinoma.