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Susanne Kjaergaard

Research Profile

Disorders

Chemicals & Drugs

Living Beings

Physiology

Phenomena

Glycosylation

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Denmark

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Publications

TOP 3
Karin Wadt; Majken Lundstrøm; Lise Bjerglund; Lisa Neerup Jensen; Maria Kirchhoff; Susanne Kjaergaard
Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions.
Marie Lindhardt Johansen; Katharina M Main; Bodil L Petersen; Ewa Rajpert-De Meyts; Niels E Skakkebaek; Casper P Hagen; Susanne Kjaergaard; Anders Juul
45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study.
C K Ekelund; Susanne Kjaergaard; Olav Bjørn Petersen; Lillian Skibsted; Ann Tabor; I Vogel
First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13.

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All Publications

2012: Karin Wadt; Majken Lundstrøm; Lise Bjerglund; Lisa Neerup Jensen; Maria Kirchhoff; Susanne Kjaergaard
Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions.
Prenatal diagnosis 2012;32(12):1212-7.
2012: Marie Lindhardt Johansen; Katharina M Main; Bodil L Petersen; Ewa Rajpert-De Meyts; Niels E Skakkebaek; Casper P Hagen; Susanne Kjaergaard; Anders Juul
45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study.
The Journal of clinical endocrinology and metabolism 2012;97(8):E1540-9.
2011: C K Ekelund; Susanne Kjaergaard; Olav Bjørn Petersen; Lillian Skibsted; Ann Tabor; I Vogel
First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2011;38(2):140-4.
2011: Thomas V O Hansen; Lars Jønson; Ane Y Steffensen; Mette K Andersen; Susanne Kjaergaard; Anne-Marie Gerdes; Bent Ejlertsen; Omid Niazi
Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.
Familial cancer 2011;10(2):207-12.
2010: Casper P Hagen; Lise Aksglaede; Kaspar Sørensen; Katharina M Main; Malene Boas; Line Cleemann; Kirsten Holm; Claus Gravholt; Anna-Maria Andersson; Anette T Pedersen; Jørgen Holm Petersen; Allan Linneberg; Susanne Kjaergaard; Anders Juul
Serum levels of anti-Müllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients.
The Journal of clinical endocrinology and metabolism 2010;95(11):5003-10.
2010: Susanne Kjaergaard; Karin Sundberg; Finn Stener Jørgensen; M D Rohde; A M Lind; Tommy Gerdes; Ann Tabor; Maria Kirchhoff
Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.
Prenatal diagnosis 2010;30(10):995-9.
2010: Anne Marie Ottesen; Lise Aksglaede; Inger Garn; Nicole Tartaglia; Flora Tassone; Claus Gravholt; Anders Bojesen; Kaspar Sørensen; Niels Jørgensen; Ewa Rajpert-De Meyts; Tommy Gerdes; Anne-Marie Lind; Susanne Kjaergaard; Anders Juul
Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.
American journal of medical genetics. Part A 2010;152A(5):1206-12.
2008: Tommy Gerdes; Maria Kirchhoff; Anne-Marie Lind; Gitte Vestergaard Larsen; Susanne Kjaergaard
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.
Prenatal diagnosis 2008;28(12):1119-25.
2005: Nanna Dahl Rendtorff; Bolette Bjerregaard; Morten Frödin; Susanne Kjaergaard; Hanne Hove; Flemming Skovby; Karen Brøndum-Nielsen; Marianne Schwartz
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.
Human mutation 2005;26(4):374-83.
2004: Susanne Kjaergaard
Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.
Danish medical bulletin 2004;51(4):350-63.
2004: Els Schollen; Susanne Kjaergaard; Tommy Martinsson; Sandrine Vuillaumier-Barrot; Morten Duno; Liesbeth Keldermans; Nathalie Seta; Gert Matthijs
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
Journal of medical genetics 2004;41(11):877-80.
2002: Susanne Kjaergaard; Jørn Müller; Flemming Skovby
Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).
Archives of disease in childhood 2002;87(4):324-7.
2002: Vibeke Westphal; Susanne Kjaergaard; Els Schollen; Kevin Martens; Stephanie Grunewald; Marianne Schwartz; Gert Matthijs; Hudson H Freeze
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.
Human molecular genetics 2002;11(5):599-604.
2001: Susanne Kjaergaard; Marianne Schwartz; Flemming Skovby
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
Archives of disease in childhood 2001;85(3):236-9.
2001: René Santer; Martina Kinner; U Steuerwald; Susanne Kjaergaard; Flemming Skovby; Henrik Simonsen; W L Shaiu; Y T Chen; Reinhard Schneppenheim; Jürgen Schaub
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
European journal of human genetics : EJHG 2001;9(5):388-91.
2001: Vibeke Westphal; Susanne Kjaergaard; Joseph A Davis; S M Peterson; Flemming Skovby; Hudson H Freeze
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.
Molecular genetics and metabolism 2001;73(1):77-85.
2000: Gert Matthijs; Els Schollen; Cecilia Bjursell; Anna Erlandson; Hudson H Freeze; F Imtiaz; Susanne Kjaergaard; Tommy Martinsson; Marianne Schwartz; Nathalie Seta; Sandrine Vuillaumier-Barrot; Vibeke Westphal; Bryan Winchester
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Human mutation 2000;16(5):386-94.
2000: Els Schollen; Susanne Kjaergaard; Eric Legius; Marianne Schwartz; Gert Matthijs
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
European journal of human genetics : EJHG 2000;8(5):367-71.
1999: Susanne Kjaergaard; Flemming Skovby; Marianne Schwartz
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
European journal of human genetics : EJHG 1999;7(8):884-8.
1998: Susanne Kjaergaard; Niels Graem; T Larsen; Flemming Skovby
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 1998;106(12):1188-93.
1998: Susanne Kjaergaard; Bengt Kristiansson; Helena Stibler; Hudson H Freeze; Marianne Schwartz; Tommy Martinsson; Flemming Skovby
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(8):884-8.
1998: Susanne Kjaergaard; Flemming Skovby; Marianne Schwartz
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
European journal of human genetics : EJHG 1998;6(4):331-6.
1997: Gordon Alton; Susanne Kjaergaard; JR Etchison; Flemming Skovby; Hudson H Freeze
Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.
Biochemical and molecular medicine 1997;60(2):127-33.