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Items: 1 to 20 of 77

1.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study, Rahman N.

Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018.

2.

Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells.

Winge SB, Dalgaard MD, Belling KG, Jensen JM, Nielsen JE, Aksglaede L, Schierup MH, Brunak S, Skakkebæk NE, Juul A, Rajpert-De Meyts E, Almstrup K.

Cell Death Dis. 2018 May 22;9(6):586. doi: 10.1038/s41419-018-0671-1.

3.

Deletion in the uridine diphosphate glucuronyltransferase 2B17 gene is associated with delayed pubarche in healthy boys.

Mouritsen A, Busch AS, Aksglaede L, Rajpert-De Meyts E, Juul A.

Endocr Connect. 2018 Mar;7(3):460-465. doi: 10.1530/EC-18-0080. Epub 2018 Feb 21.

4.

The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls.

Greiber IK, Hagen CP, Busch AS, Mieritz MG, Aksglæde L, Main K, Almstrup K, Juul A.

Endocr Connect. 2018 Feb;7(2):347-354. doi: 10.1530/EC-17-0299. Epub 2018 Jan 22.

5.

Serum concentration of anti-Müllerian hormone is not associated with semen quality.

Aksglaede L, Olesen IA, Carlsen E, Petersen JH, Juul A, Jørgensen N.

Andrology. 2018 Mar;6(2):286-292. doi: 10.1111/andr.12456. Epub 2017 Dec 20.

PMID:
29266868
6.

Nocturnal Urinary Excretion of FSH and LH in Children and Adolescents With Normal and Early Puberty.

Kolby N, Busch AS, Aksglaede L, Sørensen K, Petersen JH, Andersson AM, Juul A.

J Clin Endocrinol Metab. 2017 Oct 1;102(10):3830-3838. doi: 10.1210/jc.2017-01192.

PMID:
28938419
7.

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.

Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, Main KM, Gravholt CH.

Hum Reprod. 2017 Aug 1;32(8):1751-1760. doi: 10.1093/humrep/dex210.

PMID:
28854582
8.

Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.

Upners EN, Jensen RB, Rajpert-De Meyts E, Dunø M, Aksglaede L, Juul A.

Acta Paediatr. 2017 Oct;106(10):1651-1657. doi: 10.1111/apa.13969. Epub 2017 Jul 20.

PMID:
28667773
9.

Prevalence of SHOX haploinsufficiency among short statured children.

Marstrand-Joergensen MR, Jensen RB, Aksglaede L, Duno M, Juul A.

Pediatr Res. 2017 Feb;81(2):335-341. doi: 10.1038/pr.2016.233. Epub 2016 Nov 4.

PMID:
27814343
10.

Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility.

Olesen IA, Andersson AM, Aksglaede L, Skakkebaek NE, Rajpert-de Meyts E, Joergensen N, Juul A.

Fertil Steril. 2017 Jan;107(1):74-82.e7. doi: 10.1016/j.fertnstert.2016.09.015. Epub 2016 Oct 25.

PMID:
27793385
11.

Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

Bendroth-Asmussen L, Aksglaede L, Gernow AB, Lund AM.

Int J Gynecol Pathol. 2016 Jan;35(1):38-40. doi: 10.1097/PGP.0000000000000214.

PMID:
26166723
12.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. No abstract available.

PMID:
26077420
13.

AMH as Predictor of Premature Ovarian Insufficiency: A Longitudinal Study of 120 Turner Syndrome Patients.

Lunding SA, Aksglaede L, Anderson RA, Main KM, Juul A, Hagen CP, Pedersen AT.

J Clin Endocrinol Metab. 2015 Jul;100(7):E1030-8. doi: 10.1210/jc.2015-1621. Epub 2015 May 15.

PMID:
25978111
14.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6. Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles].

PMID:
25875215
15.

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Aksglaede L, Christensen M, Olesen JH, Duno M, Olsen RK, Andresen BS, Hougaard DM, Lund AM.

JIMD Rep. 2015;23:67-70. doi: 10.1007/8904_2015_428. Epub 2015 Mar 13.

16.

Pubertal onset in girls is strongly influenced by genetic variation affecting FSH action.

Hagen CP, Sørensen K, Aksglaede L, Mouritsen A, Mieritz MG, Tinggaard J, Wohlfart-Veje C, Petersen JH, Main KM, Rajpert-De Meyts E, Almstrup K, Juul A.

Sci Rep. 2014 Sep 18;4:6412. doi: 10.1038/srep06412.

17.

Longitudinal changes in circulating testosterone levels determined by LC-MS/MS and by a commercially available radioimmunoassay in healthy girls and boys during the pubertal transition.

Mouritsen A, Søeborg T, Johannsen TH, Aksglaede L, Sørensen K, Hagen CP, Mieritz MG, Frederiksen H, Andersson AM, Juul A.

Horm Res Paediatr. 2014;82(1):12-7. doi: 10.1159/000358560. Epub 2014 Jul 17.

PMID:
25033974
18.

Elevated serum levels of free triiodothyronine in adolescent boys with gynaecomastia compared with controls.

Mieritz MG, Sorensen K, Aksglaede L, Mouritsen A, Hagen CP, Hilsted L, Andersson AM, Juul A.

Eur J Endocrinol. 2014 Aug;171(2):193-8. doi: 10.1530/EJE-13-0847.

PMID:
24963134
19.

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium, van Montfort R, Rahman N.

Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9. Erratum in: Nat Genet. 2014 Jun;46(6):657.

20.

Outcome of fetuses with short femur length detected at second-trimester anomaly scan: a national survey.

Mathiesen JM, Aksglaede L, Skibsted L, Petersen OB, Tabor A; Danish Fetal Medicine Study Group.

Ultrasound Obstet Gynecol. 2014 Aug;44(2):160-5. doi: 10.1002/uog.13286. Epub 2014 Jun 27.

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