B. Diness

发表

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi‐allelic missense mutations in DDX41

M. Andersen, K. Schmiegelow, K. Wadt, 2018, Genes, chromosomes & cancer.

The impact of different doses of vitamin A supplementation on male and female mortality. A randomised trial from Guinea-Bissau

A. Rodrigues, P. Aaby, C. Benn, 2011, BMC pediatrics.

, trial Guinea-Bissau : randomised placebo controlled vaccine on mortality in infants in Effect of 50 000 IU vitamin A given with BCG

H. Whittle, M. Yazdanbakhsh, A. Rodrigues, 2008 .

Neonatal vitamin a supplementation: sex-differential effects on mortality?

P. Aaby, C. Benn, A. Fisker, 2006, The Journal of infectious diseases.

Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents: A 12-Year Follow-up Study of Clinical Screening and Predictive Genetic Testing

L. Køber, O. Havndrup, H. Bundgaard, 2013, Circulation.

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

H. Bundgaard, M. Duno, D. Kondziella, 2020, Journal of the Neurological Sciences.

Chlamydia pneumoniae antibodies and endothelial function as assessed by flow-mediated dilation in patients with chest pain with and without ischemic heart disease.

G. Jensen, K. Krogsgaard, B. Diness, 2003, The American journal of cardiology.

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

F. McKenzie, G. Baynam, K. Mina, 2021, Clinical genetics.

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

N. Samani, T. Webb, M. Kempers, 2021, International journal of molecular sciences.

Effect of 50 000 IU vitamin A given with BCG vaccine on mortality in infants in Guinea-Bissau: randomised placebo controlled trial

H. Whittle, M. Yazdanbakhsh, A. Rodrigues, 2008, BMJ : British Medical Journal.

Randomized trial of BCG vaccination at birth to low-birth-weight children: beneficial nonspecific effects in the neonatal period?

H. Whittle, A. Rodrigues, P. Aaby, 2011, The Journal of infectious diseases.

Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes

A. Gerdes, L. Nicolaisen, L. Roos, 2021, European Journal of Human Genetics.

The effect of high-dose vitamin A supplementation given with bacille Calmette-Guérin vaccine at birth on infant rotavirus infection and diarrhea: a randomized prospective study from Guinea-Bissau.

H. Whittle, M. Yazdanbakhsh, A. Rodrigues, 2010, The Journal of infectious diseases.

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

T. B. Rasmussen, C. Fagerberg, D. Nielsen, 2022, Clinical genetics.

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.

H. Karstensen, F. S. Jørgensen, T. D. Hjortshøj, 2022, European journal of medical genetics.

Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers

J. Langhoff‐Roos, E. Funding, B. Diness, 2017, Haemophilia : the official journal of the World Federation of Hemophilia.

A complex phenotype in a family with a pathogenic SOX3 missense variant.

S. Kreiborg, K. Main, V. Larsen, 2017, European journal of medical genetics.

Early diphtheria-tetanus-pertussis vaccination associated with higher female mortality and no difference in male mortality in a cohort of low birthweight children: an observational study within a randomised trial

H. Whittle, A. Rodrigues, P. Aaby, 2012, Archives of Disease in Childhood.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

No adverse events after simultaneous administration of 50 000 IU vitamin A and Bacille Calmette-Guerin vaccination to normal-birth-weight newborns in Guinea-Bissau

P. Aaby, C. Benn, A. Roth, 2008, European Journal of Clinical Nutrition.

The effect of high-dose vitamin A supplementation at birth on measles incidence during the first 12 months of life in boys and girls: an unplanned study within a randomised trial

H. Whittle, A. Rodrigues, P. Aaby, 2011, British Journal of Nutrition.

Effect of high-dose vitamin A supplementation on the immune response to Bacille Calmette-Guerin vaccine.

Maria Yazdanbakhsh, Peter Aaby, H. Whittle, 2007, The American journal of clinical nutrition.

Interaction between neonatal vitamin A supplementation and timing of measles vaccination: A retrospective analysis of three randomized trials from Guinea-Bissau☆

H. Whittle, A. Rodrigues, P. Aaby, 2014, Vaccine.

The Effect of 50 000 IU Vitamin A with BCG Vaccine at Birth on Growth in the First Year of Life

B. Bibby, A. Rodrigues, P. Aaby, 2011, Journal of tropical medicine.

Vitamin A supplementation and BCG vaccination at birth in low birthweight neonates: two by two factorial randomised controlled trial

H. Whittle, M. Yazdanbakhsh, A. Rodrigues, 2010, BMJ : British Medical Journal.

Two different doses of supplemental vitamin A did not affect mortality of normal-birth-weight neonates in Guinea-Bissau in a randomized controlled trial.

A. Rodrigues, P. Aaby, C. Benn, 2014, The Journal of nutrition.

Severe Postpartum Hemorrhage and Mode of Delivery: A Retrospective Cohort Study

J. Langhoff‐Roos, B. Diness, K. Petersen, 2013 .

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

M. Irving, I. Vogel, M. Davidsen, 2020, European journal of medical genetics.

Effect of high-dose vitamin A supplementation on the immune response to Bacille Calmette-Guérin vaccine 1 4

H. Whittle, E. Sartono, M. Yazdanbakhsh, 2007 .

First reported adult patient with TARP syndrome: A case report

H. Okkels, C. Lautrup, M. Petersen, 2018, American journal of medical genetics. Part A.

Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

M. McAllister, T. D. Hjortshøj, Trine B. Hammer, 2017, Journal of Genetic Counseling.

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum.

B. Loeys, H. Hove, B. Diness, 2019, European Journal of Medical Genetics.

Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.

B. Diness, Maria Bejerholm Boelman, Thomas van Overeem Hansen, 2023, American journal of medical genetics. Part A.