Publications by authors named "Julia Hoefele"

51Publications

Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex.

Gene 2020 Aug 29;753:144815. Epub 2020 May 29.

Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144815DOI Listing
August 2020

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

Gene 2020 Jun 14;742:144542. Epub 2020 Mar 14.

Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.gene.2020.144542DOI Listing
June 2020

A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay.

Neuropediatrics 2018 12 10;49(6):401-404. Epub 2018 Sep 10.

Institute of Human Genetics, Technical University of Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0038-1669926DOI Listing
December 2018

Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.

Pediatr Nephrol 2018 07 16;33(7):1269-1272. Epub 2018 Apr 16.

Dr. v. Hauner Children's Hospital, Division of Pediatric Nephrology, Ludwig-Maximilians University, Lindwurmstraße 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1007/s00467-018-3961-zDOI Listing
July 2018

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.

Gene 2018 Jul 12;663:110-114. Epub 2018 Apr 12.

Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany; Institut für Neurogenomik, Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.gene.2018.04.027DOI Listing
July 2018

Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.

Pediatr Nephrol 2018 03 6;33(3):433-437. Epub 2017 Oct 6.

Institute of Human Genetics, Technical University of Munich, Munich, Germany.

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http://dx.doi.org/10.1007/s00467-017-3811-4DOI Listing
March 2018

No Impact of the Analytical Method Used for Determining Cystatin C on Estimating Glomerular Filtration Rate in Children.

Front Pediatr 2017 11;5:66. Epub 2017 Apr 11.

Pediatric Nephrology, Children's and Adolescent's Hospital, University Hospital of Cologne, Cologne, Germany.

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http://journal.frontiersin.org/article/10.3389/fped.2017.000
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http://dx.doi.org/10.3389/fped.2017.00066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387066PMC
April 2017

Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.

World J Pediatr 2016 Nov 8;12(4):501-503. Epub 2016 Apr 8.

Department of Pediatrics, General Hospital, Celle, Germany.

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http://dx.doi.org/10.1007/s12519-016-0014-1DOI Listing
November 2016

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Pediatr Nephrol 2016 Jun 25;31(6):941-55. Epub 2016 Jan 25.

Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.

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http://dx.doi.org/10.1007/s00467-015-3302-4DOI Listing
June 2016

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.

Gene 2013 Sep 31;526(2):474-7. Epub 2013 May 31.

Center for Human Genetics and Laboratory Medicine Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.

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http://dx.doi.org/10.1016/j.gene.2013.05.045DOI Listing
September 2013

COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.

Nephrol Dial Transplant 2012 Nov;27(11):4236-40

Department of Pediatric Nephrology, University Children's Hospital, Essen, Germany.

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http://dx.doi.org/10.1093/ndt/gfs468DOI Listing
November 2012

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Eur J Med Genet 2012 Mar 31;55(3):211-5. Epub 2012 Jan 31.

Center for Human Genetics and Laboratory Medicine Dr. Klein and Dr. Rost, Martinsried, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.011DOI Listing
March 2012

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

Kidney Int 2011 Dec 24;80(11):1239-45. Epub 2011 Aug 24.

Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/ki.2011.284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037742PMC
December 2011

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.

Pediatr Nephrol 2011 Jun 22;26(6):967-71. Epub 2011 Jan 22.

Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109-5646, USA.

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http://dx.doi.org/10.1007/s00467-011-1761-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342573PMC
June 2011

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

Nephrol Dial Transplant 2011 Jul 29;26(7):2181-8. Epub 2010 Nov 29.

Center for Human Genetics and Laboratory Medicine Dr Klein and Dr Rost, Martinsried, Germany.

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http://dx.doi.org/10.1093/ndt/gfq720DOI Listing
July 2011

Disorders of sex development and Diamond-Blackfan anemia: is there an association?

Pediatr Nephrol 2010 Jul 1;25(7):1255-61. Epub 2010 Apr 1.

Pediatric Nephrology, University Children's Hospital, Ludwig-Maximilian's University, Dr. von Haunersches Kinderspital, Lindwurmstrasse 4, 80337, Munich, Germany.

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http://link.springer.com/10.1007/s00467-010-1497-y
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http://dx.doi.org/10.1007/s00467-010-1497-yDOI Listing
July 2010

Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.

Pediatr Nephrol 2010 Aug 23;25(8):1539-42. Epub 2010 Feb 23.

Pediatric Nephrology, Dr. von Haunersches Kinderspital, University Children's Hospital, Ludwig-Maximilian's University, Munich, Germany.

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http://dx.doi.org/10.1007/s00467-010-1467-4DOI Listing
August 2010

BK virus induced nephritis in a boy with acute myeloid leukaemia undergoing bone marrow transplantation.

NDT Plus 2008 Oct 3;1(5):336-9. Epub 2008 Jul 3.

Department of Transplantation , University Children's Hospital , Dr. von Haunersches Kinderspital , Ludwig-Maximilians-University of Munich , Munich , Germany.

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http://dx.doi.org/10.1093/ndtplus/sfn077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421277PMC
October 2008

Evidence of oligogenic inheritance in nephronophthisis.

J Am Soc Nephrol 2007 Oct 12;18(10):2789-95. Epub 2007 Sep 12.

Departments of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1681/ASN.2007020243DOI Listing
October 2007

Haemophilus paraphrophilus, a rare cause of intracerebral abscess in children.

Eur J Pediatr 2008 Jun 28;167(6):629-32. Epub 2007 Jul 28.

University Children's Hospital, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-University of Munich, Munich, Germany.

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http://link.springer.com/content/pdf/10.1007/s00431-007-0560
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http://link.springer.com/10.1007/s00431-007-0560-6
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http://dx.doi.org/10.1007/s00431-007-0560-6DOI Listing
June 2008

Mutational analysis in 119 families with nephronophthisis.

Pediatr Nephrol 2007 Mar 24;22(3):366-70. Epub 2006 Oct 24.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109-0676, USA.

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http://dx.doi.org/10.1007/s00467-006-0334-9DOI Listing
March 2007

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Hum Mutat 2005 Apr;25(4):411

Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1002/humu.9326DOI Listing
April 2005

Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred.

Nephrol Dial Transplant 2004 Dec;19(12):3172-5

University of Michigan, Department of Pediatrics, Ann Arbor, MI 48109-0640, USA.

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http://dx.doi.org/10.1093/ndt/gfh514DOI Listing
December 2004

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

Am J Kidney Dis 2004 Feb;43(2):358-64

Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1053/j.ajkd.2003.10.023DOI Listing
February 2004