M. Schwartz

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Mitochondrial DNA variant 11719G is a marker for the mtDNA haplogroup cluster HV.

J. Saillard, P. Magalhães, M. Schwartz, 2000, Human biology.

Steroid 21‐hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

N. Skakkebæk, M. Schwartz, G. Ohlsson, 1999, Human mutation.

Genetic heterogeneity among blue-cone monochromats.

J. Nathans, L. Sharpe, E. Zrenner, 1993, American journal of human genetics.

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

M. Schwartz, J. Vissing, M. Duno, 2007, Brain : a journal of neurology.

Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?

M. Schwartz, K. Ørstavik, R. Ørstavik, 1999, Journal of medical genetics.

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

M. Schwartz, S. Kjaergaard, F. Skovby, 1998, European Journal of Human Genetics.

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

M. Schwartz, S. Kjaergaard, F. Skovby, 1999, European Journal of Human Genetics.

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG‐Ia)

H. Freeze, M. Schwartz, G. Matthijs, 2000, Human mutation.

Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis.

M. Schwartz, N. Høiby, A. Svejgaard, 1999, The Journal of clinical investigation.

Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark.

M. Schwartz, H. Johansen, C. Koch, 1990, Human genetics.

A novel arginine‐to‐cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype

M. Schwartz, M. Duno, E. Christensen, 2007, Clinical genetics.

Under-representation of bladder transitional cell tumour 9q, 11p and 14q LOH in urine and impact on molecular diagnosis.

M. Schwartz, K. Steven, T. Horn, 2005, Anticancer research.

New evaluation of plasma DNA microsatellite analysis in patients with TCC of the urinary bladder.

M. Schwartz, K. Steven, T. Horn, 2004, Anticancer research.

Microsatellite analysis of urine sediment versus urine cytology for diagnosing transitional cell tumors of the urinary bladder

M. Schwartz, K. Steven, T. Horn, 2004, APMIS : acta pathologica, microbiologica, et immunologica Scandinavica.

Late onset of stroke-like episode associated with a 3256C→T point mutation of mitochondrial DNA

M. Schwartz, J. Vissing, F. Wibrand, 2003, Journal of the Neurological Sciences.

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

E. Holme, O. Hjalmarson, M. Schwartz, 2010, European Journal of Pediatrics.

High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark

M. Schwartz, J. Vissing, M. Sveen, 2006, Annals of neurology.

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Koenraad Devriendt, Peter Vandenberghe, Jean-Pierre Fryns, 2001, Nature Genetics.

Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene

M. Schwartz, L. Tranebjaerg, F. Skovby, 1996, Thrombosis and Haemostasis.

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

M. D'urso, C. Wadelius, A. Metspalu, 2002, European Journal of Human Genetics.

N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.

T. Rosenberg, M. Schwartz, P. Garred, 2007, Molecular vision.

Hypertrichosis in patients with SURF1 mutations

M. Schwartz, E. Christensen, F. Wibrand, 2005, American journal of medical genetics. Part A.

Tissue specific distribution of the 3243ARG mtDNA

K. Kyvik, M. Schwartz, J. Vissing, 2006 .

Endocrine and exocrine pancreatic function and the ΔF508 mutation in cystic fibrosis

M. Schwartz, B. Thorsteinsson, S. Lanng, 1991 .

Diabetes mellitus in cystic fibrosis: genetic and immunological markers

F. Pociot, J. Nerup, M. Schwartz, 1993, Acta paediatrica.

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.

X. Estivill, J. Kere, M. Farrall, 1987, Genomics.

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

M. Schwartz, J. Vissing, J. Hertz, 2005, Neurology.

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

M. Schwartz, K. Ravn, F. Hansen, 2003, Journal of medical genetics.

Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.

M. Schwartz, A. Lund, F. Skovby, 1997, Human mutation.

Tissue specific distribution of the 3243A→G mtDNA mutation

K. Kyvik, M. Schwartz, A. Frederiksen, 2006, Journal of Medical Genetics.

Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients

T. Rosenberg, M. Schwartz, T. Rosenberg, 1994, Acta ophthalmologica.

A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes

E. Niebuhr, M. Schwartz, S. Norby, 1990, Human Genetics.

Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

T. Rosenberg, M. Schwartz, M. Duno, 2012, Ophthalmic genetics.

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands

D. Hougaard, M. Schwartz, E. Christensen, 2007, Journal of Inherited Metabolic Disease.

Images and Case Reports in Arrhythmia and Electrophysiology Cardiac Myotonic Dystrophy Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy in a Young Sudden Cardiac Death Victim

J. Svendsen, H. Bundgaard, M. Schwartz, 2008 .

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.

M. Schwartz, E. Christensen, J. Kraus, 2000, American journal of human genetics.

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations

M. Schwartz, J. Vissing, M. Duno, 2005, Annals of neurology.

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

A. Covone, C. Broeckhoven, K. Bushby, 2004, Human Genetics.

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

H. Freeze, M. Schwartz, G. Matthijs, 2002, Human molecular genetics.

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

R. Nussbaum, F. Cremers, H. Ropers, 1989, Genomics.

Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR–SSCP: detection of a new polymorphic mutation

M. Schwartz, L. Rudbeck, J. Dissing, 1999, Annals of human genetics.

Exclusion mapping of 12 X‐linked disease loci and 10 DNA probes from the long arm of the X‐chromosome

E. Niebuhr, M. Schwartz, S. Norby, 1990, Clinical genetics.

Prenatal diagnosis of cystic fibrosis using linked DNA probes

M. Farrall, M. Devoto, M. Krawczak, 1988, Prenatal diagnosis.

High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study

M. Schwartz, E. Høgdall, N. Sørensen, 1995, Human Genetics.

394delTT: a Nordic cystic fibrosis mutation

M. Schwartz, M. Claustres, M. Anvret, 1994, Human Genetics.

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

M. Schwartz, J. Vissing, M. Duno, 2008, European Journal of Human Genetics.

GENETIC COUNSELLING AND PRENATAL DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CAUSED BY PATERNAL MOSAICISM

M. Schwartz, A. Lund, F. Skovby, 1996, Prenatal diagnosis.

X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis

M. Schwartz, Jørn Müller, S. Blichfeldt, 1996, Human Genetics.

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

K. Davies, M. Schwartz, E. Christensen, 1986, Clinical genetics.

How Do Carriers of Hemophilia Experience Prenatal Diagnosis (PND)?Carriers’Immediate and Later Reactions to Amniocentesis and Fetal Blood Sampling

T. Mcneil, M. Schwartz, R. Ljung, 1989, Acta paediatrica Scandinavica.

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

M. Schwartz, R. Haller, J. Vissing, 2009, Brain : a journal of neurology.

Cushing's syndrome secondary to ectopic cortisol production by an ovarian carcinoma.

M. Schwartz, P. Schwartz, A. Heimann, 1983, The Journal of clinical endocrinology and metabolism.

Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

K. Main, E. L. Mortensen, M. Schwartz, 2010, International journal of pediatric endocrinology.

Long-TermGynecological Outcomes inWomen with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

K. Main, E. L. Mortensen, M. Schwartz, 2010 .

Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction (PCR). Comparison of conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis.

K. B. Petersen, M. Schwartz, N. Gregersen, 1989, Clinical genetics.

Osteogenesis imperfecta: Mosaicism and refinement of the genotype‐phenotype map in OI type III

M. Schwartz, A. Lund, F. Skovby, 1999 .

Gly802Asp Substitution in the proα2(I) Collagen Chain in a Family with Recurrent Osteogenesis imperfecta due to Paternal Mosaicism

M. Raghunath, M. Schwartz, A. Lund, 1996, European journal of human genetics : EJHG.

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

M. Schwartz, S. Kjaergaard, F. Skovby, 2001, Archives of disease in childhood.

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I

M. Schwartz, E. Christensen, A. Superti-Furga, 1998, Human Genetics.

Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination

M. Schwartz, L. Berge, S. Eik-Nes, 1994, Prenatal diagnosis.

Linkage between the loci for cystic fibrosis and paraoxonase

L. Tsui, W. Warwick, H. Eiberg, 1986, Clinical genetics.

High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.

K. Kyvik, M. Schwartz, A. Frederiksen, 2009, The Journal of clinical endocrinology and metabolism.

High prevalence of impaired glucose homeostasis and myopathy in a- and oligosymptomatic 3243A>G mtDNA mutation-positive subjects

K. Kyvik, M. Schwartz, A. Frederiksen, 2009 .

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.

M. Schwartz, J. Vissing, M. Duno, 2006, Brain : a journal of neurology.

A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2

M. Schwartz, K. Ravn, J. Nielsen, 2001, Brain and Development.

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.

Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing

M. Schwartz, G. Ohlsson, 1996, Human Genetics.

FACTOR VIII GENE SPECIFIC PROBE FOR PRENATAL DIAGNOSIS OF HAEMOPHILIA A

D. Caput, M. Schwartz, K. Hartog, 1985, The Lancet.

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

F E Preston, P G Mori, S S Sommer, 1995, Blood.

Detection of Ten New Mutations by Screening the Gene Encoding Factor IX of Danish Hemophilia B Patients

M. Schwartz, J. Ingerslev, E. Scheibel, 1995, Thrombosis and Haemostasis.

A new Hind III restriction fragment length polymorphism in the hemophilia A locus

M. Schwartz, T. Kruse, P. Rasmussen, 1987, Human Genetics.

Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X‐chromosome inactivation?

M. Schwartz, J. Ingerslev, T. Kruse, 1989, Clinical genetics.

Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion

D. Cooper, V. Kakkar, M. Schwartz, 1992, Prenatal diagnosis.

Clinical use of DNA markers (RFLP) in genetic counselling and prenatal diagnosis of haemophilia A and B

M. Schwartz, E. Scheibel, Nanni Din, 1986 .

[Prenatal diagnosis of hemophilia].

M. Schwartz, L. Holmberg, N. Brandt, 1979, Ugeskrift for laeger.

Absence of Correlation between X Chromosome Inactivation Pattern and Plasma Concentration of Factor VIII and Factor IX in Carriers of Haemophilia A and B

M. Schwartz, J. Ingerslev, E. Scheibel, 2000, Thrombosis and Haemostasis.

Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

M. Schwartz, A. Lund, F. Skovby, 1999, Human mutation.

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

M. Schwartz, A. Balassopoulou, J. Boué, 1990, Human Genetics.

Paternal inheritance of mitochondrial DNA.

M. Schwartz, J. Vissing, 2002, The New England journal of medicine.

Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

M. Schwartz, A. Frederiksen, J. Vissing, 2010, Muscle & nerve.

FIRST-TRIMESTER DIAGNOSIS OF WISKOTT-ALDRICH SYNDROME BY DNA MARKERS

K. Nicolaides, C. Rodeck, M. Schwartz, 1989, The Lancet.

Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation

M. Schwartz, N. Høiby, H. Johansen, 1991, The Lancet.

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

X-linked ocular albinism: prevalence and mutations – a national study

T. Rosenberg, M. Schwartz, 1998, European Journal of Human Genetics.

Aland eye disease: linkage data.

M. Schwartz, T. Rosenberg, 1991, Genomics.

Erroneous Genetic Sex Determination of a Newborn Twin Girl due to Chimerism Caused by Foetal Blood Transfusion

C. Lundsteen, M. Schwartz, A. Byskov, 2003, Hormone Research in Paediatrics.

Is infertility after surgery for cryptorchidism congenital or acquired?

M. Schwartz, J. Thorup, D. Cortes, 1998, Pediatric Surgery International.

Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene.

H. Leffers, N. Skakkebaek, A. Giwercman, 2000, The Journal of clinical endocrinology and metabolism.

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.

N. Skakkebaek, M. Schwartz, J. Müller, 1992, The Journal of clinical endocrinology and metabolism.

Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

X. Estivill, E. Dequeker, M. Schwartz, 2000, European Journal of Human Genetics.

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Xavier Estivill, Manfred Stuhrmann, Milan Macek, 2004, American journal of human genetics.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Milan Macek, Teresa Casals, 2009, European Journal of Human Genetics.

Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation.

R. E. Peterson, T. Hensle, M. Schwartz, 1981, The Journal of clinical endocrinology and metabolism.

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

M. Schwartz, G. Knudsen, M. Bailey, 2006, European Journal of Human Genetics.

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Yi-Ju Li, S. Züchner, D. Hunt, 2009, Investigative ophthalmology & visual science.

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

M. Schwartz, J. Vissing, M. Duno, 2004, European Journal of Human Genetics.

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

X. Estivill, J. Kere, J. Bertranpetit, 1994, Nature Genetics.

Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins.

G. Semenza, K. Doheny, M. Schwartz, 1997, American journal of medical genetics.

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

A. Silahtaroglu, N. Tommerup, M. Schwartz, 2001, European Journal of Human Genetics.

Identification of mutations in Danish choroideremia families

T. Rosenberg, F. Cremers, M. Schwartz, 1993, Human mutation.

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.

Choroideremia: further evidence for assignment of the locus to Xq13–Xq21

C. Lundsteen, E. Niebuhr, M. Schwartz, 1986, Human Genetics.

Assignment of the locus order DXS28‐ DXS67‐DMD as a spin‐off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy

M. Schwartz, S. Norby, Søren Nørby, 1987, Clinical genetics.

Mutation Analysis of MECP2 and Determination of the X-Inactivation Pattern in Hungarian Rett Syndrome Patients

A. Silahtaroglu, N. Laing, M. Schwartz, 2004 .

Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.

M. Schwartz, L. Holmberg, K. Carlsson, 1988, Blood.

New patterns of inheritance in mitochondrial disease.

M. Schwartz, J. Vissing, John Vissing, 2003, Biochemical and biophysical research communications.

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.

T. Rosenberg, M. Schwartz, A. Gal, 1996, Human molecular genetics.

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

(G586V) substitutions in the α1 and α2 chains of collagen I: Effect of α‐chain stoichiometry on the phenotype of osteogenesis imperfecta?

M. Schwartz, A. Lund, F. Skovby, 1997 .

Genetic diagnosis of 21‐hydroxylase deficiency: DGGE‐based mutation scanning of CYP21

M. Schwartz, J. Müller, Gita Ohlsson, 1999, Human mutation.

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.

M. Schwartz, J. Vissing, E. Christensen, 2007, Archives of neurology.

Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples.

M. Schwartz, S. Ziebe, A. Andersen, 2001, Molecular human reproduction.

Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.

N. Jørgensen, K. Main, M. Schwartz, 2009, International journal of andrology.

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

T. Rosenberg, M. Schwartz, J. Vissing, 2001, Annals of neurology.

Psychological and social impact of carrier screening for cystic fibrosis among pregnant women — a pilot study

M. Schwartz, F. Skovby, N. Brandt, 1996, Clinical genetics.

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

C. Broeckhoven, M. Schwartz, J. Vissing, 2003, European Journal of Human Genetics.

[Paternal inheritance of mitochondrial DNA].

M. Schwartz, J. Vissing, 2003, Ugeskrift for laeger.

Screening for Carriers of Cystic Fibrosis among Pregnant Women: A Pilot Study

M. Schwartz, F. Skovby, N. Brandt, 1993, European journal of human genetics : EJHG.

Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein‐1 (REP‐1) gene

H. Ropers, M. Schwartz, H. van Bokhoven, 1997, Human mutation.

Leukocyte cDNA Analysis of NSD1 Derived from Confirmed Sotos Syndrome Patients

M. Schwartz, M. Duno, F. Skovby, 2007, Annals of human genetics.

Possible locus for polycystic kidney disease on chromosome 2

M. Schwartz, S. Norby, 1990, The Lancet.

Do carriers of PYGM mutations have symptoms of McArdle disease?

M. Schwartz, J. Vissing, M. Duno, 2006, Neurology.

Human X chromosome markers and Duchenne muscular dystrophy.

K. Davies, V. Steinbicker, M. Schwartz, 1985, Nucleic acids research.

Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.

E. Niebuhr, M. Schwartz, T. Rosenberg, 1987, Ophthalmic paediatrics and genetics.

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

D. Hill, A. Chapelle, K. Davies, 2004, Human Genetics.

Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3–p11.22 region

K. Siminovitch, M. Schwartz, M. Peacocke, 1993, Human Genetics.

Recombination of Human Mitochondrial DNA

Konstantin Khrapko, K. Khrapko, M. Schwartz, 2004, Science.

Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome

M. Schwartz, K. Ravn, J. Nielsen, 2005, Clinical genetics.

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

D. Page, E. Niebuhr, M. Schwartz, 1988, Human Genetics.

Prenatal diagnosis of choroideremia.

T. Rosenberg, M. Schwartz, T. Rosenberg, 2009, Acta ophthalmologica Scandinavica. Supplement.

Choroideremia in interstitial deletion of the X chromosome.

C. Lundsteen, T. Rosenberg, E. Niebuhr, 1986, Ophthalmic paediatrics and genetics.

Characterization of two new dominant ClC‐1 channel mutations associated with myotonia

M. Schwartz, J. Vissing, M. Duno, 2003, Muscle & nerve.

Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients

M. Schwartz, H. Boman, H. Eiken, 1993 .

Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease

P. Lebecque, A. Azad, M. Schwartz, 2009, Human mutation.

DXS26 (HU16) is located in Xq21.1

A. Chapelle, A. Wright, E. Sankila, 1990, Human Genetics.

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

M. Schwartz, J. Vissing, T. Jeppesen, 2008, Neuromuscular Disorders.

Decrement of compound muscle action potential is related to mutation type in myotonia congenita

M. Schwartz, J. Vissing, E. Colding-Jørgensen, 2003, Muscle & nerve.

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long‐range PCR sequencing, and report of 28 novel mutations

M. Schwartz, B. Bjerregaard, S. Kjaergaard, 2005, Human mutation.

Large genomic rearrangements in MECP2

M. Schwartz, O. Skjeldal, M. Hultén, 2005, Human mutation.

Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis

M. Schwartz, S. Lanng, C. Koch, 1992, Acta paediatrica.

Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV

M. Schwartz, F. Skovby, A. Lund, 1997, Acta paediatrica.

Screening forDefinedCysticFibrosis Mutations bySolid-Phase Minisequencing

J. Kere, M. Schwartz, E. Savilahti, 1992 .

dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations – Summary of the first 100 Sotos Syndrome Mutations

M. Schwartz, M. Duno, L. Melchior, 2005 .

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

F. Cremers, M. Jay, A. Wright, 1990, American journal of human genetics.

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.

M. Schwartz, S. Norby, L. Tranebjaerg, 1997, Human molecular genetics.

Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV

M. Schwartz, A. Lund, F. Skovby, 1996, Human Genetics.

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

T. Rosenberg, F. Cremers, H. Ropers, 1994, Human molecular genetics.

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

A. Helenius, E. Berger, T. Hennet, 1999, Glycoconjugate Journal.

dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.

M. Schwartz, M. Duno, L. Melchior, 2005, Annals of human genetics.

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

M. Schwartz, M. Duno, 2004, Genetic testing.

Deletion of exon 16 of the dystrophin gene is not associated with disease

M. Schwartz, J. Vissing, M. Duno, 2007, Human mutation.

Six Different Point Mutations in Seven Danish Families with Symptomatic Protein C Deficiency

M. Schwartz, B. Lind, S. Thorsen, 1995, Thrombosis and Haemostasis.

Impaired cognitive function in women with congenital adrenal hyperplasia.

K. Main, J. Reinisch, E. L. Mortensen, 2006, The Journal of clinical endocrinology and metabolism.

Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I

M. Schwartz, E. Christensen, Z. Lukacs, 2003, Journal of Inherited Metabolic Disease.

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

H. Leffers, M. Durán, M. Schwartz, 1997, Journal of Inherited Metabolic Disease.

Glutaryl‐CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

M. Schwartz, C. Greenberg, E. Christensen, 1998, Human mutation.

A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment

P. S. St George-Hyslop, G. Waldemar, N. Heegaard, 2008, European journal of neurology.

Interstitial deletion of the short arm of chromosome 3

M. Schwartz, J. Hertz, W. Coerdt, 1988, Human Genetics.

X-linked high myopia associated with cone dysfunction.

T. Rosenberg, A. Motulsky, L. Atwood, 2004, Archives of ophthalmology.

Screening for defined cystic fibrosis mutations by solid-phase minisequencing.

J. Kere, A. Syvänen, M. Schwartz, 1992, Clinical chemistry.

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

M. Schwartz, B. V. van Engelen, H. Scheffer, 2012, European Journal of Human Genetics.

Best Practice Guidelines and Recommendations on Myotonic Dystrophy types 1 and 2 EMQN Best Practice Meeting , 31 October 2008 , Nijmegen , The Netherlands

B. Engelen, M. Schwartz, H. Scheffer, 2010 .

Mitochondrial Haplogroups: Ischemic Cardiovascular Disease, Other Diseases, Mortality, and Longevity in the General Population

B. Nordestgaard, M. Benn, M. Schwartz, 2008, Circulation.

Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population.

T. Rosenberg, P. Magalhães, M. Schwartz, 2016, Investigative Ophthalmology and Visual Science.

Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.

M. Schwartz, J. Kraus, K. Ravn, 2000, Molecular genetics and metabolism.

An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

T. Rosenberg, M. Schwartz, F. Wibrand, 2001, European Journal of Human Genetics.

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

M. Schwartz, A. Frederiksen, J. Vissing, 2006, Archives of neurology.

No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations

M. Schwartz, J. Vissing, 2004, Journal of the Neurological Sciences.

Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy

M. Schwartz, J. Vissing, D. Olsen, 2003, Annals of neurology.

Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.

M. Schwartz, I. Bernstein, F. Nielsen, 2005, Mutation research.

Frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Denmark

M. Schwartz, H. Johansen, C. Koch, 1990, Human Genetics.

High‐resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease

M. Schwartz, J. Vissing, M. Duno, 2009, Annals of Human Genetics.

FALSE-NEGATIVE RESULTS WITH METHYLUMBELLIFERYLGUANIDINOBENZOATE REACTIVE PROTEASES IN CYSTIC FIBROSIS PREGNANCIES

M. Schwartz, N. Brandt, 1981, The Lancet.

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.

Failure of short‐term mannose therapy of patients with carbohydrate‐deficient glycoprotein syndrome type 1A

H. Freeze, M. Schwartz, S. Kjaergaard, 1998, Acta paediatrica.

Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci

N. J. Malik, M. Krawczak, M. Schwartz, 1987, Human Genetics.

Endocrine and exocrine pancreatic function and the delta F508 mutation in cystic fibrosis.

M. Schwartz, B. Thorsteinsson, S. Lanng, 1991, Clinical Genetics.

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

G. Waldemar, M. Schwartz, K. Krabbe, 2008, Journal of Neurological Sciences.

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

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

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

M. Schwartz, G. Matthijs, E. Legius, 2000, European Journal of Human Genetics.

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

M. Schwartz, A. Lund, F. Skovby, 1996, Clinical genetics.

FIRST‐TRIMESTER PRENATAL DIAGNOSIS OF CROUZON SYNDROME

S. Kreiborg, M. Schwartz, F. Skovby, 1996, Prenatal diagnosis.

RESEARCH ARTlCLE

P. Cerutti, T. Rosenberg, F. Cremers, 2022 .

Cystic fibrosis; hint of linkage with F13B

H. Eiberg, E. Niebuhr, J. Mohr, 1985, Clinical Genetics.

Linkage between the cystic fibrosis locus and markers on chromosome 7q.

M. Farrall, R. Williamson, M. Schwartz, 1986, Cytogenetics and Cell Genetics.

Prenatal exclusion of severe factor VII deficiency by DNA sequencing

D. Cooper, V. Kakkar, M. Schwartz, 1992, The Lancet.

Muscle structural changes in mitochondrial myopathy relate to genotype

M. Schwartz, J. Vissing, D. Olsen, 2003, Journal of Neurology.

Haplotype analysis to determine the position of a mutation among closely linked DNA markers.

X. Estivill, J. Kere, A. de la Chapelle, 1993, Human molecular genetics.

(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?

M. Schwartz, A. Lund, F. Skovby, 1997, Human Mutation.

Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT

M. Schwartz, L. Holmberg, R. Kornfält, 1995, Acta paediatrica.

Psychological Impact of Carrier Screening for Cystic Fibrosis among Pregnant Women

M. Schwartz, F. Skovby, N. Brandt, 1996, European journal of human genetics : EJHG.

Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation.

M. Schwartz, N. Høiby, H. Johansen, 1991, Lancet.

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

J. Schouten, L. Larsen, P. Andersen, 2008, Analytical chemistry.

High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.

K. Kyvik, M. Schwartz, A. Frederiksen, 2009, Journal of Clinical Endocrinology and Metabolism.