Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 27

1.

A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.

Hinrichs GR, Hansen LH, Nielsen MR, Fagerberg C, Dieperink H, Rittig S, Jensen BL.

Physiol Rep. 2016 Apr;4(8). pii: e12764. doi: 10.14814/phy2.12764.

2.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

Twigg SR, Ousager LO, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, Bak GC, Hove H, Hansen LK, Fagerberg CR, Tajir M, Wilkie AO.

Clin Genet. 2015 Dec 26. doi: 10.1111/cge.12721. [Epub ahead of print]

PMID:
26706854
3.

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.

Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11.2 European Consortium.

Mol Psychiatry. 2015 Feb;20(1):140-7. doi: 10.1038/mp.2014.145. Epub 2014 Nov 25.

4.

[Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis].

Nørgaard LN, Ekelund C, Fagerberg C, Kjærgaard S, Lundstrøm M, Skibsted L, Sperling L, Sundberg K, Tabor A, Vogel I, Petersen OB.

Ugeskr Laeger. 2014 Jul 21;176(30):1379-82. Danish.

PMID:
25292226
5.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R.

Am J Med Genet A. 2014 Aug;164A(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12.

PMID:
24819041
6.

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC.

Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.

7.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

8.

Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening.

Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A; Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group.

Ultrasound Obstet Gynecol. 2014 Mar;43(3):265-71. doi: 10.1002/uog.13270. Epub 2014 Feb 25.

9.

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

Mendola A, Schlögel MJ, Ghalamkarpour A, Irrthum A, Nguyen HL, Fastré E, Bygum A, van der Vleuten C, Fagerberg C, Baselga E, Quere I, Mulliken JB, Boon LM, Brouillard P, Vikkula M; Lymphedema Research Group.

Mol Syndromol. 2013 Sep;4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21.

10.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.

Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27.

PMID:
23813913
11.

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

Fagerberg CR, Graakjaer J, Heinl UD, Ousager LB, Dreyer I, Kirchhoff M, Rasmussen AA, Lautrup CK, Birkebaek N, Sorensen K.

Eur J Med Genet. 2013 Feb;56(2):98-107. doi: 10.1016/j.ejmg.2012.09.009. Epub 2012 Oct 10. Review.

PMID:
23063575
12.

Histiocytic disorders of the gastrointestinal tract.

Detlefsen S, Fagerberg CR, Ousager LB, Lindebjerg J, Marcussen N, Nathan T, Sørensen FB.

Hum Pathol. 2013 May;44(5):683-96. doi: 10.1016/j.humpath.2012.05.010. Epub 2012 Oct 11. Review.

PMID:
23063502
13.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium.

J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. Erratum in: J Med Genet. 2014 Jul;51(7):478.

14.

A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.

Barber JC, Brasch-Andersen C, Maloney VK, Huang S, Bateman MS, Graakjaer J, Heinl UD, Fagerberg C.

Cytogenet Genome Res. 2013;139(1):59-64. doi: 10.1159/000342542. Epub 2012 Oct 2.

PMID:
23038475
15.

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR.

Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20.

PMID:
22821852
16.

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR.

Eur J Med Genet. 2012 Oct;55(10):564-7. doi: 10.1016/j.ejmg.2012.06.009. Epub 2012 Jun 30.

PMID:
22750323
17.

Phylloid hypermelanosis in a child with psychomotor delay, cicatricial alopecia, hearing loss and polythelia.

Bygum A, Petkov Y, Graakjaer J, Jensen UB, Fagerberg C.

Acta Derm Venereol. 2012 Mar;92(2):191-2. doi: 10.2340/00015555-1259. No abstract available.

18.

International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency.

Caballero T, Farkas H, Bouillet L, Bowen T, Gompel A, Fagerberg C, Bjökander J, Bork K, Bygum A, Cicardi M, de Carolis C, Frank M, Gooi JH, Longhurst H, Martínez-Saguer I, Nielsen EW, Obtulowitz K, Perricone R, Prior N; C-1-INH Deficiency Working Group.

J Allergy Clin Immunol. 2012 Feb;129(2):308-20. doi: 10.1016/j.jaci.2011.11.025. Epub 2011 Dec 24.

PMID:
22197274
19.

Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult.

Fagerberg CR, Eriksen FB, Thormann J, Østergaard JR.

Clin Dysmorphol. 2012 Jan;21(1):45-7. doi: 10.1097/MCD.0b013e32834a0436.

PMID:
21857505
20.

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation.

Bygum A, Fagerberg CR, Clemmensen OJ, Fiebig B, Hafner C.

BMC Med Genet. 2011 Jun 5;12:79. doi: 10.1186/1471-2350-12-79.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk