Publications by authors named "Cornelia Kraus"

83Publications

A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy.

Am J Med Genet A 2020 Sep 9. Epub 2020 Sep 9.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61846DOI Listing
September 2020

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

Eur J Med Genet 2020 Sep 2;63(9):103998. Epub 2020 Jul 2.

Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.103998DOI Listing
September 2020

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Mod Pathol 2020 11 1;33(11):2341-2353. Epub 2020 Jul 1.

Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41379-020-0596-yDOI Listing
November 2020

Body size, inbreeding, and lifespan in domestic dogs.

Conserv Genet 2020 Feb 5;21(1):137-148. Epub 2019 Dec 5.

Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10592-019-01240-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7326369PMC
February 2020

Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between and .

J Med Genet 2020 May 7. Epub 2020 May 7.

Medical Department III - Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Saxony, Germany

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2019-106633DOI Listing
May 2020

Molecular diagnosis of kidney transplant failure based on urine.

Am J Transplant 2020 05 20;20(5):1410-1416. Epub 2020 Jan 20.

Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ajt.15738DOI Listing
May 2020

Parasite burden in a short-lived chameleon, .

Int J Parasitol Parasites Wildl 2019 Dec 30;10:231-240. Epub 2019 Sep 30.

Dept. Sociobiology/Anthropology, Institute of Zoology and Anthropology, University of Göttingen, Kellnerweg 6, 37077, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijppaw.2019.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812308PMC
December 2019

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

BMC Cancer 2019 May 10;19(1):435. Epub 2019 May 10.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12885-019-5633-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511147PMC
May 2019

TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.

Acta Neuropathol 2019 04 4;137(4):657-673. Epub 2019 Mar 4.

Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-019-01982-5DOI Listing
April 2019

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2019 01 11;179(1):50-56. Epub 2018 Dec 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60679
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.60679DOI Listing
January 2019

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Am J Med Genet A 2018 12 18;176(12):2872-2876. Epub 2018 Nov 18.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.40640
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.40640DOI Listing
December 2018

[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene].

Ophthalmologe 2019 Aug;116(8):780-784

Kinder- und Jugendklinik am Universitätsklinikum, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00347-018-0796-8
Publisher Site
http://dx.doi.org/10.1007/s00347-018-0796-8DOI Listing
August 2019

Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.

Geburtshilfe Frauenheilkd 2018 May 4;78(5):481-492. Epub 2018 Jun 4.

Department of Gynecology and Obstetrics, University Hospital Erlangen, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-0603-4350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986564PMC
May 2018

BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients.

Breast Cancer Res Treat 2018 Aug 3;171(1):85-94. Epub 2018 May 3.

Department of Gynecology and Obstetrics, Erlangen University Hospital, Comprehensive Cancer Center Erlangen-EMN, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-018-4797-8DOI Listing
August 2018

Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis.

Brain Dev 2018 Apr 27;40(4):330-333. Epub 2017 Nov 27.

Department of Pediatrics, Neuropediatrics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2017.11.005DOI Listing
April 2018

Exome Pool-Seq in neurodevelopmental disorders.

Eur J Hum Genet 2017 12 20;25(12):1364-1376. Epub 2017 Nov 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0022-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865117PMC
December 2017

Highly variable lifespan in an annual reptile, Labord's chameleon (Furcifer labordi).

Sci Rep 2017 09 12;7(1):11397. Epub 2017 Sep 12.

Dept. Sociobiology/Anthropology, Institute of Zoology and Anthropology, University of Göttingen, Kellnerweg 6, 37077, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-017-11701-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595997PMC
September 2017

Hair cortisol concentrations correlate negatively with survival in a wild primate population.

BMC Ecol 2017 09 1;17(1):30. Epub 2017 Sep 1.

Department of Sociobiology/Anthropology, Georg-August University of Göttingen, Kellnerweg 6, 37077, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12898-017-0140-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579956PMC
September 2017

Shared evolutionary origin of major histocompatibility complex polymorphism in sympatric lemurs.

Mol Ecol 2017 Oct 21;26(20):5629-5645. Epub 2017 Sep 21.

Institute for Evolutionary Biology, Montpellier (ISEM, UMR 5554), CNRS, Université Montpellier, Montpellier Cedex 5, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/mec.14336DOI Listing
October 2017

Does habitat disturbance affect stress, body condition and parasitism in two sympatric lemurs?

Conserv Physiol 2016 10;4(1):cow034. Epub 2016 Sep 10.

Department of Sociobiology/Anthropology , Georg-August University of Göttingen , Kellnerweg 6 , 37077 Göttingen , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/conphys/cow034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020880PMC
September 2016

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Int J Cancer 2017 Jan 23;140(1):95-102. Epub 2016 Sep 23.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.30428DOI Listing
January 2017

Host sex and age influence endoparasite burdens in the gray mouse lemur.

Front Zool 2015 1;12:25. Epub 2015 Oct 1.

Department of Sociobiology/Anthropology, Georg-August University of Göttingen, Kellnerweg 6, 37077 Göttingen, Germany ; Behavioral Ecology and Sociobiology Unit, German Primate Center, Kellnerweg 4, 37077 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12983-015-0118-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591582PMC
October 2015

Evaluating noninvasive markers of nonhuman primate immune activation and inflammation.

Am J Phys Anthropol 2015 Dec 7;158(4):673-84. Epub 2015 Aug 7.

Endocrinology Laboratory, German Primate Center, Kellnerweg 4, 37077, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajpa.22821DOI Listing
December 2015

The stress of growing old: sex- and season-specific effects of age on allostatic load in wild grey mouse lemurs.

Oecologia 2015 Aug 7;178(4):1063-75. Epub 2015 Apr 7.

Department of Sociobiology/Anthropology, University of Göttingen, Kellnerweg 6, 37077, Göttingen, Germany,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00442-015-3297-3DOI Listing
August 2015

Losing grip: Senescent decline in physical strength in a small-bodied primate in captivity and in the wild.

Exp Gerontol 2015 Jan 22;61:54-61. Epub 2014 Nov 22.

Sociobiology/Anthropology Department, Georg-August University Göttingen, Göttingen, Germany; Behavioral Ecology and Sociobiology Unit, German Primate Center DPZ, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.exger.2014.11.017DOI Listing
January 2015

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

Int J Cancer 2015 Mar 30;136(6):E559-68. Epub 2014 Aug 30.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.29149DOI Listing
March 2015

Senescence or selective disappearance? Age trajectories of body mass in wild and captive populations of a small-bodied primate.

Proc Biol Sci 2014 Sep;281(1791):20140830

Department of Sociobiology/Anthropology, Georg-August University of Göttingen, Kellnerweg 6, Göttingen 37077, Germany Behavioral Ecology and Sociobiology Unit, German Primate Center, Kellnerweg 4, Göttingen 37077, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1098/rspb.2014.0830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132673PMC
September 2014

Stable DNA methylation boundaries and expanded trinucleotide repeats: role of DNA insertions.

J Mol Biol 2014 Jul 6;426(14):2554-66. Epub 2014 May 6.

Institute for Clinical and Molecular Virology, Erlangen University Medical School, D-91054 Erlangen, Germany; Institute of Genetics, University of Cologne, D-50674 Cologne, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmb.2014.04.025DOI Listing
July 2014

CAGn repeat of the androgen receptor is linked to proopiomelanocortin promoter methylation-relevance for craving of male alcohol-dependent patients?

Psychopharmacology (Berl) 2014 May 24;231(10):2059-66. Epub 2013 Nov 24.

Department of Psychiatry, Socialpsychiatry and Psychotherapy, Center for Addiction Research, Hannover Medical School, Carl-Neuberg-Straße 1, 30625, Hannover, Germany,

View Article

Download full-text PDF

Source
http://search.proquest.com/openview/aed59d896f86b965ffba729e
Web Search
http://link.springer.com/content/pdf/10.1007/s00213-013-3349
Web Search
http://link.springer.com/10.1007/s00213-013-3349-5
Publisher Site
http://dx.doi.org/10.1007/s00213-013-3349-5DOI Listing
May 2014

Evaluating capture stress in wild gray mouse lemurs via repeated fecal sampling: method validation and the influence of prior experience and handling protocols on stress responses.

Gen Comp Endocrinol 2014 Jan 5;195:68-79. Epub 2013 Nov 5.

Department of Sociobiology/Anthropology, University of Göttingen, Kellnerweg 6, 37077 Göttingen, Germany; Behavioral Ecology and Sociobiology Unit, German Primate Center DPZ, Kellnerweg 4, 37077 Göttingen, Germany; Courant Research Centre Evolution of Social Behaviour, Kellnerweg 6, 37077 Göttingen, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ygcen.2013.10.017DOI Listing
January 2014

The size-life span trade-off decomposed: why large dogs die young.

Am Nat 2013 Apr 21;181(4):492-505. Epub 2013 Feb 21.

Laboratory of Survival and Longevity, Max Planck Institute for Demographic Research, Rostock, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/669665DOI Listing
April 2013

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Am J Med Genet A 2012 Jul 7;158A(7):1765-70. Epub 2012 Jun 7.

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.35427
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35427DOI Listing
July 2012

A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.

Cardiol Young 2011 Feb 16;21(1):62-5. Epub 2010 Nov 16.

Department of Pediatric Cardiology, University Hospital of Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951110001563DOI Listing
February 2011

DNA methylation of the POMC gene promoter is associated with craving in alcohol dependence.

J Neural Transm (Vienna) 2010 Apr 27;117(4):513-9. Epub 2010 Feb 27.

Department of Psychiatry, Center for Addiction Research, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00702-010-0378-7
Publisher Site
http://dx.doi.org/10.1007/s00702-010-0378-7DOI Listing
April 2010

Family legacies: short- and long-term fitness consequences of early-life conditions in female European rabbits.

J Anim Ecol 2009 Jul 9;78(4):789-97. Epub 2009 Mar 9.

Department of Animal Physiology, University of Bayreuth, D-95440 Bayreuth, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2656.2009.01537.xDOI Listing
July 2009

Genetic polymorphisms in venous thrombosis and pulmonary embolism after total hip arthroplasty: a pilot study.

Clin Orthop Relat Res 2009 Jun 18;467(6):1507-15. Epub 2008 Sep 18.

Department of Transfusion Medicine and Haemostaseology, University Hospital of Erlangen, Krankenhausstrasse 12, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11999-008-0498-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674155PMC
June 2009

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

Eur J Med Genet 2008 Jul-Aug;51(4):362-7. Epub 2008 Mar 20.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120800046
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2008.03.001DOI Listing
October 2008

The costs of risky male behaviour: sex differences in seasonal survival in a small sexually monomorphic primate.

Proc Biol Sci 2008 Jul;275(1643):1635-44

Max Planck Institute for Demographic Research, Konrad-Zuse Strasse 1, 18057 Rostock, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1098/rspb.2008.0200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2602817PMC
July 2008

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

Hum Genet 2007 Dec;122(5):547

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.

Hum Genet 2007 Dec;122(5):546

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

Hum Genet 2007 Dec;122(5):547

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type 1B.

Hum Genet 2007 Dec;122(5):547

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type X.

Hum Genet 2007 Dec;122(5):547

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

Hum Genet 2007 Dec;122(5):548

Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.

Hum Genet 2007 Dec;122(5):546

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

Hum Genet 2007 Dec;122(5):546

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.

Hum Genet 2007 Dec;122(5):545-6

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A.

Hum Genet 2007 Dec;122(5):545

Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
December 2007

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

Am J Med Genet A 2008 Apr;146A(8):977-83

Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32242DOI Listing
April 2008

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

Cell Physiol Biochem 2007 ;19(5-6):239-48

Institute of Human Genetics, University of Erlangen-Nuremberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000100643DOI Listing
July 2007

Influence of reproductive season and rank on fecal glucocorticoid levels in free-ranging male Verreaux's sifakas (Propithecus verreauxi).

Horm Behav 2007 May 21;51(5):640-8. Epub 2007 Mar 21.

Department of Behavioral Ecology and Sociobiology, German Primate Center, Kellnerweg 4, 37077 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yhbeh.2007.03.005DOI Listing
May 2007

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

Am J Med Genet A 2007 Jan;143A(2):135-41

Department of Pediatrics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31451DOI Listing
January 2007

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Am J Med Genet A 2006 Apr;140(8):869-72

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31196DOI Listing
April 2006

Does the unusual life history of the precocial cavy (Cavia magna) translate into an exceptional field metabolic rate?

Physiol Biochem Zool 2005 Jan-Feb;78(1):48-54

Lehrstuhl fur Verhaltensforschung, Universitat Bielefeld, Postfach 100131, 33501 Bielefeld, Germany.

View Article

Download full-text PDF

Source
http://www.journals.uchicago.edu/doi/10.1086/425197
Publisher Site
http://dx.doi.org/10.1086/425197DOI Listing
April 2005

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).

Am J Med Genet A 2005 Jan;132A(2):185-8

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30414DOI Listing
January 2005

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.

Neurogenetics 2004 Dec 22;5(4):229-38. Epub 2004 Oct 22.

Institute of Human Genetics, University of Goettingen, Heinrich-Dueker-Weg 12, 37073, Goettingen, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10048-004-0197-9
Publisher Site
http://dx.doi.org/10.1007/s10048-004-0197-9DOI Listing
December 2004

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Eur J Hum Genet 2003 Feb;11(2):170-8

Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5200920DOI Listing
February 2003

Spectrum of arterial obstructions caused by one elastin gene point mutation.

Eur J Pediatr 2003 Jan;162(1):53-4

Department of Paediatrics and Adolescent Medicine, Paediatric Cardiology, University of Erlangen-Nürnberg, Loschgestrasse 15, 91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-002-1111-9DOI Listing
January 2003

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Hum Mutat 2003 Jan;21(1):100

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9101DOI Listing
January 2003