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Items: 1 to 50 of 130

1.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A.

Nat Rev Nephrol. 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. Review.

PMID:
31068690
2.

Enactive social cognition: Diachronic constitution & coupled anticipation.

Jurgens A, Kirchhoff MD.

Conscious Cogn. 2019 Apr;70:1-10. doi: 10.1016/j.concog.2019.02.001. Epub 2019 Feb 15. Review.

PMID:
30772628
3.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V; DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A.

Nat Genet. 2018 Oct;50(10):1442-1451. doi: 10.1038/s41588-018-0220-y. Epub 2018 Sep 17.

PMID:
30224647
4.

A New, Better BET: Rescuing and Revising Basic Emotion Theory.

Hutto DD, Robertson I, Kirchhoff MD.

Front Psychol. 2018 Jul 17;9:1217. doi: 10.3389/fpsyg.2018.01217. eCollection 2018.

5.

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I.

Am J Hum Genet. 2018 Jun 7;102(6):1090-1103. doi: 10.1016/j.ajhg.2018.04.005. Epub 2018 May 24.

6.

Development of large-scale manufacturing of adipose-derived stromal cells for clinical applications using bioreactors and human platelet lysate.

Haack-Sørensen M, Juhl M, Follin B, Harary Søndergaard R, Kirchhoff M, Kastrup J, Ekblond A.

Scand J Clin Lab Invest. 2018 Jul;78(4):293-300. doi: 10.1080/00365513.2018.1462082. Epub 2018 Apr 17.

PMID:
29661028
7.

Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

Bayat A, Kirchhoff M, Madsen CG, Kreiborg S.

Eur J Med Genet. 2018 Aug;61(8):473-477. doi: 10.1016/j.ejmg.2018.03.009. Epub 2018 Mar 27.

PMID:
29601900
8.

The Markov blankets of life: autonomy, active inference and the free energy principle.

Kirchhoff M, Parr T, Palacios E, Friston K, Kiverstein J.

J R Soc Interface. 2018 Jan;15(138). pii: 20170792. doi: 10.1098/rsif.2017.0792. Review.

9.

Hierarchical Markov blankets and adaptive active inference: Comment on "Answering Schrödinger's question: A free-energy formulation" by Maxwell James Désormeau Ramstead et al.

Kirchhoff M.

Phys Life Rev. 2018 Mar;24:27-28. doi: 10.1016/j.plrev.2017.12.009. Epub 2018 Jan 2. No abstract available.

PMID:
29306637
10.

Deciphering the complex nature of bolting time regulation in Beta vulgaris.

Tränkner C, Pfeiffer N, Kirchhoff M, Kopisch-Obuch FJ, van Dijk H, Schilhabel M, Hasler M, Emrani N.

Theor Appl Genet. 2017 Aug;130(8):1649-1667. doi: 10.1007/s00122-017-2916-2. Epub 2017 May 6.

PMID:
28478574
11.

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

Bayat A, Kirchhoff M, Madsen CG, Roos L, Kreiborg S.

Clin Dysmorphol. 2017 Jul;26(3):148-153. doi: 10.1097/MCD.0000000000000182. No abstract available.

PMID:
28452798
12.

Same Physician, Different Location, Different Patient Satisfaction Scores.

Bendesky BS, Hunter K, Kirchhoff MA, Jones CW.

Ann Emerg Med. 2016 Nov;68(5):531-535. doi: 10.1016/j.annemergmed.2015.12.021. Epub 2016 Feb 11.

PMID:
26875063
13.

Association between chest compression rates and clinical outcomes following in-hospital cardiac arrest at an academic tertiary hospital.

Kilgannon JH, Kirchhoff M, Pierce L, Aunchman N, Trzeciak S, Roberts BW.

Resuscitation. 2017 Jan;110:154-161. doi: 10.1016/j.resuscitation.2016.09.015. Epub 2016 Sep 22.

14.

Comparison of clinical grade human platelet lysates for cultivation of mesenchymal stromal cells from bone marrow and adipose tissue.

Juhl M, Tratwal J, Follin B, Søndergaard RH, Kirchhoff M, Ekblond A, Kastrup J, Haack-Sørensen M.

Scand J Clin Lab Invest. 2016;76(2):93-104. doi: 10.3109/00365513.2015.1099723. Epub 2016 Jan 11.

PMID:
26878874
15.
16.

Psyche at the end of life: Psychiatric symptoms are prevalent in patients admitted to a palliative care unit.

Masel EK, Berghoff AS, Mladen A, Schur S, Maehr B, Kirchhoff M, Simanek R, Bauer M, Watzke HH, Amering M.

Palliat Support Care. 2016 Jun;14(3):250-8. doi: 10.1017/S1478951515000899. Epub 2015 Oct 8.

PMID:
26447347
17.

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Grønborg S, Kjaergaard S, Hove H, Larsen VA, Kirchhoff M.

Am J Med Genet A. 2015 Nov;167A(11):2731-6. doi: 10.1002/ajmg.a.37227. Epub 2015 Jun 24.

PMID:
26109418
18.

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Nyboe D, Kreiborg S, Kirchhoff M, Hove HB.

Clin Dysmorphol. 2015 Jul;24(3):109-12. doi: 10.1097/MCD.0000000000000079. No abstract available.

PMID:
25714559
19.

Extensive enactivism: why keep it all in?

Hutto DD, Kirchhoff MD, Myin E.

Front Hum Neurosci. 2014 Sep 25;8:706. doi: 10.3389/fnhum.2014.00706. eCollection 2014.

20.

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.

Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S.

Am J Med Genet A. 2014 May;164A(5):1277-83. doi: 10.1002/ajmg.a.36439. Epub 2014 Mar 24.

21.

[Dizziness in geriatric patients].

Kirchhoff M, Andersen HE.

Ugeskr Laeger. 2013 Nov 4;175(45):2716-20. Review. Danish.

PMID:
24629235
22.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T.

Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11.

PMID:
24326587
23.

Enrichment of autologous fat grafts with ex-vivo expanded adipose tissue-derived stem cells for graft survival: a randomised placebo-controlled trial.

Kølle SF, Fischer-Nielsen A, Mathiasen AB, Elberg JJ, Oliveri RS, Glovinski PV, Kastrup J, Kirchhoff M, Rasmussen BS, Talman ML, Thomsen C, Dickmeiss E, Drzewiecki KT.

Lancet. 2013 Sep 28;382(9898):1113-20. doi: 10.1016/S0140-6736(13)61410-5.

PMID:
24075051
24.

Hybrid wheat: quantitative genetic parameters and consequences for the design of breeding programs.

Longin CF, Gowda M, Mühleisen J, Ebmeyer E, Kazman E, Schachschneider R, Schacht J, Kirchhoff M, Zhao Y, Reif JC.

Theor Appl Genet. 2013 Nov;126(11):2791-801. doi: 10.1007/s00122-013-2172-z. Epub 2013 Aug 4.

PMID:
23913277
25.

CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): a case.

Assing K, Nielsen C, Kirchhoff M, Madsen HO, Ryder LP, Fisker N.

Hum Immunol. 2013 Sep;74(9):1047-50. doi: 10.1016/j.humimm.2013.06.002. Epub 2013 Jun 7.

PMID:
23747993
26.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L.

Am J Med Genet A. 2013 Jul;161A(7):1594-8. doi: 10.1002/ajmg.a.35970. Epub 2013 May 22.

PMID:
23704076
27.

Pooled human platelet lysate versus fetal bovine serum-investigating the proliferation rate, chromosome stability and angiogenic potential of human adipose tissue-derived stem cells intended for clinical use.

Trojahn Kølle SF, Oliveri RS, Glovinski PV, Kirchhoff M, Mathiasen AB, Elberg JJ, Andersen PS, Drzewiecki KT, Fischer-Nielsen A.

Cytotherapy. 2013 Sep;15(9):1086-97. doi: 10.1016/j.jcyt.2013.01.217. Epub 2013 Apr 17.

PMID:
23602579
28.

EcoTILLING in Beta vulgaris reveals polymorphisms in the FLC-like gene BvFL1 that are associated with annuality and winter hardiness.

Frerichmann SL, Kirchhoff M, Müller AE, Scheidig AJ, Jung C, Kopisch-Obuch FJ.

BMC Plant Biol. 2013 Mar 25;13:52. doi: 10.1186/1471-2229-13-52.

29.

Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions.

Wadt K, Jensen LN, Bjerglund L, Lundstrøm M, Kirchhoff M, Kjaergaard S.

Prenat Diagn. 2012 Dec;32(12):1212-7. doi: 10.1002/pd.3981. Epub 2012 Oct 14. Review.

PMID:
23065819
30.

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
31.

Emergency department inter-hospital transfer for post-cardiac arrest care: initial experience with implementation of a regional cardiac resuscitation center in the United States.

Roberts BW, Kilgannon JH, Mitchell JA, Mittal N, Aji J, Kirchhoff ME, Zanotti S, Parrillo JE, Chansky ME, Trzeciak S.

Resuscitation. 2013 May;84(5):596-601. doi: 10.1016/j.resuscitation.2012.09.018. Epub 2012 Sep 20.

PMID:
23000361
32.

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Zeesman S, Kjaergaard S, Hove HD, Kirchhoff M, Stevens JM, Nowaczyk MJ.

Am J Med Genet A. 2012 Aug;158A(8):1832-6. doi: 10.1002/ajmg.a.35508. Epub 2012 Jun 29.

PMID:
22753084
33.

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy.

Kroeldrup L, Kjaergaard S, Kirchhoff M, Kock K, Brasch-Andersen C, Kibaek M, Ousager LB.

Eur J Med Genet. 2012 Oct;55(10):557-60. doi: 10.1016/j.ejmg.2012.04.009. Epub 2012 Jun 6.

PMID:
22683912
35.

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I.

Clin Genet. 2012 Sep;82(3):248-55. doi: 10.1111/j.1399-0004.2011.01755.x. Epub 2011 Aug 24.

36.

Maintenance of EGFR and EGFRvIII expressions in an in vivo and in vitro model of human glioblastoma multiforme.

Stockhausen MT, Broholm H, Villingshøj M, Kirchhoff M, Gerdes T, Kristoffersen K, Kosteljanetz M, Spang-Thomsen M, Poulsen HS.

Exp Cell Res. 2011 Jul 1;317(11):1513-26. doi: 10.1016/j.yexcr.2011.04.001. Epub 2011 Apr 15.

PMID:
21514294
37.

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.

Eur J Hum Genet. 2011 Jul;19(7):757-62. doi: 10.1038/ejhg.2011.13. Epub 2011 Feb 16.

38.

Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation.

Schejbel L, Schmidt IM, Kirchhoff M, Andersen CB, Marquart HV, Zipfel P, Garred P.

Genes Immun. 2011 Mar;12(2):90-9. doi: 10.1038/gene.2010.63. Epub 2011 Jan 27.

PMID:
21270828
39.

Lateral augmentation of the mandible in minipigs with a synthetic nanostructured hydroxyapatite block.

Kirchhoff M, Lenz S, Henkel KO, Frerich B, Holzhüter G, Radefeldt S, Gerber T.

J Biomed Mater Res B Appl Biomater. 2011 Feb;96(2):342-50. doi: 10.1002/jbm.b.31775.

PMID:
21210515
40.

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.

Wohlleber E, Kirchhoff M, Zink AM, Kreiss-Nachtsheim M, Küchler A, Jepsen B, Kjaergaard S, Engels H.

Eur J Med Genet. 2011 Jan-Feb;54(1):67-72. doi: 10.1016/j.ejmg.2010.09.012. Epub 2010 Oct 13.

PMID:
20950717
41.

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.

Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M.

Prenat Diagn. 2010 Oct;30(10):995-9. doi: 10.1002/pd.2604.

PMID:
20824892
42.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.

Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP.

Am J Med Genet A. 2010 Mar;152A(3):638-45. doi: 10.1002/ajmg.a.33292.

PMID:
20186789
43.

Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses.

Schou KV, Kirchhoff M, Nygaard U, Jørgensen C, Sundberg K.

Ultrasound Obstet Gynecol. 2009 Dec;34(6):618-22. doi: 10.1002/uog.7468.

44.

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.

Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R.

Eur J Hum Genet. 2010 Mar;18(3):291-5. doi: 10.1038/ejhg.2009.163. Epub 2009 Oct 21.

45.

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.

J Med Genet. 2009 Oct;46(10):703-10. doi: 10.1136/jmg.2008.065094. Epub 2009 Jun 10.

PMID:
19520700
46.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M.

Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814.

PMID:
19363806
47.

Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.

Stoeva RE, Grozdanova LI, Vermeesch JR, Kirchhoff M, Fryns JP, Ivanov IS, Patcheva IH, Dimitrov BI, Krastev TB, Linev AJ, Stefanova MT.

Folia Med (Plovdiv). 2008 Oct-Dec;50(4):55-62.

PMID:
19209531
48.

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

Bisgaard AM, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, Schwartz M, Christensen E.

Clin Genet. 2009 Feb;75(2):175-9. doi: 10.1111/j.1399-0004.2008.01113.x. Epub 2008 Nov 21.

PMID:
19054018
49.

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.

Gerdes T, Kirchhoff M, Lind AM, Vestergaard Larsen G, Kjaergaard S.

Prenat Diagn. 2008 Dec;28(12):1119-25. doi: 10.1002/pd.2137.

PMID:
19003800
50.

[Elderly's emergency department contacts following falls].

Kirchhoff M, Bregnbak MJ, Backe H, Hendriksen C, Obel K.

Ugeskr Laeger. 2008 Nov 3;170(45):3667-70. Danish.

PMID:
18986618

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