Publications by authors named "Heiko Reutter"

100Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R St-Germain Lot Snijders Blok Arianna Vino Verena Klämbt Konstantin Deutsch Chen-Han Wilfred Wu Caroline M Kolvenbach Franziska Kause Isabel Ottlewski Ronen Schneider Thomas M Kitzler Amar J Majmundar Florian Buerger Ana C Onuchic-Whitford Mao Youying Amy Kolb Daanya Salmanullah Evan Chen Amelie T van der Ven Jia Rao Hadas Ityel Steve Seltzsam Johanna M Rieke Jing Chen Asaf Vivante Daw-Yang Hwang Stefan Kohl Gabriel C Dworschak Tobias Hermle Mariëlle Alders Tobias Bartolomaeus Stuart B Bauer Michelle A Baum Eva H Brilstra Thomas D Challman Jacob Zyskind Carrie E Costin Katrina M Dipple Floor A Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 Oct 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580PMC
October 2020

DNA Methylation and Bladder Cancer: Where Genotype does not Predict Phenotype.

Curr Genomics 2020 Jan;21(1):34-36

1Department of Ophthalmology, University Clinic Bonn, Bonn, Germany; 2Department of Neurology, University Clinic Bonn, Bonn, Germany; 3Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany; 4Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany; 5Department of Urology, University Hospital Bonn, Bonn, Germany.

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http://dx.doi.org/10.2174/1389202921666200102163422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324896PMC
January 2020

Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula.

Transl Pediatr 2019 Dec;8(5):378-382

Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.21037/tp.2019.04.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970114PMC
December 2019

Expanding the knowledge on development of CAKUT: molecular genetics and beyond.

Ann Transl Med 2019 Oct;7(20):596

Department of Pediatrics, Children's Hospital, Children's Hospital, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.21037/atm.2019.09.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861812PMC
October 2019

Retinal findings in neonates with congenital diaphragmatic hernia and extracorporeal membrane oxygenation.

J Pediatr Surg 2020 Jul 25;55(7):1292-1295. Epub 2019 Aug 25.

Department of Ophthalmology, University of Bonn, Bonn, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223468193051
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http://dx.doi.org/10.1016/j.jpedsurg.2019.07.021DOI Listing
July 2020

Prediction of ECMO and Mortality in Neonates with Congenital Diaphragmatic Hernia Using the SNAP-II Score.

Klin Padiatr 2019 Nov 30;231(6):297-303. Epub 2019 Sep 30.

Department of Neonatology and Pediatric Critical Care Medicine, University Children's Hospital, Bonn, Germany.

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http://dx.doi.org/10.1055/a-1009-6671DOI Listing
November 2019

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.

Am J Med Genet A 2019 11 1;179(11):2252-2256. Epub 2019 Aug 1.

Institute of Human Genetics, University Hospital, Technical University of Aachen, Aachen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61314DOI Listing
November 2019

Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association.

Cancer Genet 2019 06 31;235-236:18-20. Epub 2019 May 31.

Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany; Department of Genomics, Life & Brain Center, Bonn, Germany; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1016/j.cancergen.2019.05.004DOI Listing
June 2019

Isolated bladder exstrophy in prenatal diagnosis.

Arch Gynecol Obstet 2019 08 21;300(2):355-363. Epub 2019 May 21.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1007/s00404-019-05193-xDOI Listing
August 2019

Prenatal Diagnosis of Enterolithiasis in 20 Cases.

Fetal Diagn Ther 2019 15;46(4):266-273. Epub 2019 Mar 15.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany,

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http://dx.doi.org/10.1159/000496843DOI Listing
March 2020

Expression of soluble receptor for advanced glycation end products is associated with disease severity in congenital diaphragmatic hernia.

Am J Physiol Lung Cell Mol Physiol 2019 06 6;316(6):L1061-L1069. Epub 2019 Mar 6.

Institute for Clinical Chemistry and Clinical Pharmacology, University of Bonn , Bonn , Germany.

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http://dx.doi.org/10.1152/ajplung.00359.2018DOI Listing
June 2019

Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany.

Front Pediatr 2018 19;6:392. Epub 2018 Dec 19.

Department of Pediatric Surgery and Pediatric Urology, Medical Center for Children and Adolescents AUF DER BULT, Hannover, Germany.

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http://dx.doi.org/10.3389/fped.2018.00392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306024PMC
December 2018

AUTHOR REPLY.

Urology 2019 01;123:219-220

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S00904295183075
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http://dx.doi.org/10.1016/j.urology.2018.05.048DOI Listing
January 2019

Congenital diaphragmatic hernia in a case of Cat eye syndrome.

Clin Case Rep 2018 Sep 23;6(9):1786-1790. Epub 2018 Jul 23.

Department of Neonatology University Medicine Mannheim University of Heidelberg Mannheim Germany.

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http://dx.doi.org/10.1002/ccr3.1646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132134PMC
September 2018

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

J Am Soc Nephrol 2018 09 24;29(9):2348-2361. Epub 2018 Aug 24.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://www.jasn.org/lookup/doi/10.1681/ASN.2017121265
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http://dx.doi.org/10.1681/ASN.2017121265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658PMC
September 2018

Clinical and echocardiographic risk factors for extubation failure in infants with congenital diaphragmatic hernia.

Paediatr Anaesth 2018 10 16;28(10):864-872. Epub 2018 Aug 16.

Department of Neonatology and Pediatric Intensive Care Medicine, Center for Pediatrics, University Hospital Bonn, Bonn, Germany.

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http://doi.wiley.com/10.1111/pan.13470
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http://dx.doi.org/10.1111/pan.13470DOI Listing
October 2018

Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study.

Urology 2019 01 1;123:210-220. Epub 2018 Aug 1.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.urology.2018.05.039DOI Listing
January 2019

Extracorporeal membrane oxygenation support in a newborn with lower urinary tract obstruction and pulmonary hypoplasia: a case report.

J Med Case Rep 2018 Jul 17;12(1):210. Epub 2018 Jul 17.

Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.

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https://jmedicalcasereports.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13256-018-1749-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048767PMC
July 2018

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.

Fetal Diagn Ther 2019 23;45(1):62-68. Epub 2018 Feb 23.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1159/000486781DOI Listing
April 2019

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.

Horm Res Paediatr 2017 26;88(6):408-417. Epub 2017 Oct 26.

Children's Hospital, Department of Pediatrics, University of Bonn, Bonn, Germany,

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http://dx.doi.org/10.1159/000480505DOI Listing
October 2018

Role of the LF-SINE-Derived Distal Enhancer in Patients with Classic Bladder Exstrophy.

J Pediatr Genet 2017 Sep 21;6(3):169-173. Epub 2017 Apr 21.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1055/s-0037-1602387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548531PMC
September 2017

Early postnatal echocardiographic assessment of pulmonary blood flow in newborns with congenital diaphragmatic hernia.

J Perinat Med 2018 Sep;46(7):735-743

Department of Neonatology and Pediatric Critical Care Medicine, University of Bonn Children's Hospital, Sigmund-Freud-Str. 25, 53127 Bonn, Germany.

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http://dx.doi.org/10.1515/jpm-2017-0031DOI Listing
September 2018

An examination of the factors affecting intestinal wall integrity in newborns at birth.

J Matern Fetal Neonatal Med 2018 Feb 8;31(3):294-299. Epub 2017 Feb 8.

a Neonatology and Pediatric Intensive Care , Children's Hospital, University of Bonn , Bonn , Germany.

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http://dx.doi.org/10.1080/14767058.2017.1285883DOI Listing
February 2018

Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net.

J Pediatr Urol 2017 Apr 13;13(2):183.e1-183.e6. Epub 2016 Jul 13.

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.jpurol.2016.04.052DOI Listing
April 2017

PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?

Birth Defects Res A Clin Mol Teratol 2016 Aug 25;106(8):724-8. Epub 2016 May 25.

Institute of Human Genetics, Christian-Albrechts-University Kiel, Kiel, Germany.

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http://dx.doi.org/10.1002/bdra.23521DOI Listing
August 2016

Evaluation of two commercially available ELISA kits for the determination of melatonin concentrations in amniotic fluid throughout pregnancy.

Ann Clin Biochem 2017 Jan 28;54(1):107-112. Epub 2016 Sep 28.

4 Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1177/0004563216645123DOI Listing
January 2017

Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases.

Fetal Diagn Ther 2017 5;41(1):66-70. Epub 2016 May 5.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1159/000446108DOI Listing
February 2017

Melatonin Concentrations and Antioxidative Capacity of Human Breast Milk According to Gestational Age and the Time of Day.

J Hum Lact 2016 Nov 10;32(4):NP105-NP110. Epub 2016 Jul 10.

1 Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1177/0890334415625217DOI Listing
November 2016

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs.

J Neurodev Disord 2016 15;8:11. Epub 2016 Apr 15.

Institute of Human Genetics, University of Bonn, Bonn, Germany ; Department of Neonatology and Pediatric Intensive Care & Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, D-53127 Bonn, Germany.

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http://dx.doi.org/10.1186/s11689-016-9144-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832534PMC
April 2016

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.

J Med Case Rep 2016 Mar 30;10:76. Epub 2016 Mar 30.

Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.

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http://dx.doi.org/10.1186/s13256-016-0855-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818464PMC
March 2016

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.

Pediatr Nephrol 2016 11 8;31(11):2025-33. Epub 2016 Feb 8.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1007/s00467-016-3335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207487PMC
November 2016

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

J Clin Endocrinol Metab 2016 Mar 8;101(3):898-904. Epub 2016 Jan 8.

Pediatric Endocrinology (F.S., M.P., B.Go., J.W.), Pediatric Gastroenterology and Hepatology (G.D.), and Pediatric Hematology and Oncology (S.S.), Children's Hospital, University of Bonn, 53113 Bonn, Germany; Center for Chronic Immunodeficiency (L.G.-D., B.Gr.), University Medical Center and University of Freiburg, 79085 Freiburg, Germany; Institute for Human Genetics (A.C.H., H.R.), University of Bonn, 53113 Bonn, Germany; and Department of Neonatology and Pediatric Intensive Care (H.R.), Children's Hospital, University of Bonn, 53113 Bonn, Germany.

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http://dx.doi.org/10.1210/jc.2015-3382DOI Listing
March 2016

Parental risk factors of anorectal malformations: Analysis with a regional population-based control group.

Birth Defects Res A Clin Mol Teratol 2016 Feb 21;106(2):133-41. Epub 2015 Dec 21.

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/bdra.23469
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http://dx.doi.org/10.1002/bdra.23469DOI Listing
February 2016

Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.

Twin Res Hum Genet 2016 Feb 18;19(1):60-5. Epub 2015 Dec 18.

Institute of Human Genetics,University of Bonn,Bonn,Germany.

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http://dx.doi.org/10.1017/thg.2015.93DOI Listing
February 2016

Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.

Birth Defects Res A Clin Mol Teratol 2016 Jan 17;106(1):16-26. Epub 2015 Dec 17.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/bdra.23458DOI Listing
January 2016

The Challenges of the European Anorectal Malformations-Net Registry.

Eur J Pediatr Surg 2015 Dec 7;25(6):481-7. Epub 2015 Dec 7.

Department of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1055/s-0035-1569149DOI Listing
December 2015

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Hum Mol Genet 2015 Sep 23;24(18):5069-78. Epub 2015 Jun 23.

Department of Women's and Children's Health and Center for Molecular Medicine, Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-17176 Stockholm, Sweden,

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http://dx.doi.org/10.1093/hmg/ddv225DOI Listing
September 2015

Sexual function in adult patients with classic bladder exstrophy: A multicenter study.

J Pediatr Urol 2015 Jun 12;11(3):125.e1-6. Epub 2015 Mar 12.

Department of Urology and Pediatric Urology, University of Ulm, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jpurol.2015.02.001DOI Listing
June 2015

Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.

Mol Med Rep 2015 Jul 13;12(1):1579-83. Epub 2015 Mar 13.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn D‑53127, Germany.

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http://dx.doi.org/10.3892/mmr.2015.3486DOI Listing
July 2015

Antioxidative status and oxidative stress in the fetal circulation at birth: the effects of time of delivery and presence of labor.

Early Hum Dev 2015 Feb 13;91(2):119-24. Epub 2015 Jan 13.

Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2014.12.012DOI Listing
February 2015

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

Birth Defects Res A Clin Mol Teratol 2014 Oct 8;100(10):797-800. Epub 2014 Sep 8.

Department of Gynaecology & Obstetrics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium; Department of Gynaecology & Obstetrics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/bdra.23299DOI Listing
October 2014

Prenatal diagnosis of covered cloacal exstrophy.

Fetal Diagn Ther 2014 1;36(4):333-6. Epub 2014 Aug 1.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1159/000360418DOI Listing
August 2015

Scimitar syndrome in a case with VACTERL association.

Cardiol Young 2015 Mar 6;25(3):606-9. Epub 2014 Jun 6.

3Department of Pediatric Cardiology,Children's Hospital,University Hospital of Bonn,Bonn,Germany.

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http://www.journals.cambridge.org/abstract_S1047951114000924
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http://dx.doi.org/10.1017/S1047951114000924DOI Listing
March 2015

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

J Am Soc Nephrol 2014 Sep 3;25(9):1917-22. Epub 2014 Apr 3.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland

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http://dx.doi.org/10.1681/ASN.2013101103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147986PMC
September 2014

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Hum Mutat 2014 Jul 6;35(7):809-13. Epub 2014 May 6.

Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.22555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277879PMC
July 2014

Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene.

Am J Med Genet A 2014 Jun 25;164A(6):1611-3. Epub 2014 Mar 25.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36479DOI Listing
June 2014

Early prenatal diagnosis of the OEIS complex with different appearance in early compared with late pregnancy before spontaneous rupture of the cloacal membrane.

Prenat Diagn 2014 Aug 26;34(8):803-5. Epub 2014 May 26.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://doi.wiley.com/10.1002/pd.4355
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http://dx.doi.org/10.1002/pd.4355DOI Listing
August 2014

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Kidney Int 2014 Jun 15;85(6):1429-33. Epub 2014 Jan 15.

1] Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

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http://dx.doi.org/10.1038/ki.2013.508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040148PMC
June 2014

Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population.

Birth Defects Res A Clin Mol Teratol 2014 Jan 31;100(1):43-7. Epub 2013 Dec 31.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/bdra.23209DOI Listing
January 2014

First results of a European multi-center registry of patients with anorectal malformations.

J Pediatr Surg 2013 Dec;48(12):2530-5

Department of Pediatric Surgery, Radboud University Nijmegen Medical Centre (RUNMC), Nijmegen, The Netherlands; Department of Pediatric Surgery, Sophia Children's Hospital-Erasmus MC, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpedsurg.2013.07.022DOI Listing
December 2013

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.

Birth Defects Res A Clin Mol Teratol 2013 Dec 2;97(12):759-63. Epub 2013 Aug 2.

Department of Public Health Sciences, School of Medicine, University of California, Davis, California.

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http://dx.doi.org/10.1002/bdra.23161DOI Listing
December 2013

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.

J Pediatr 2013 Oct 1;163(4):1202-7. Epub 2013 Jul 1.

Institute of Human Genetics, RWTH Technical University, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.05.017DOI Listing
October 2013

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects.

J Pediatr Genet 2013 Jun;2(2):53-68

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.3233/PGE-13049
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http://dx.doi.org/10.3233/PGE-13049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020960PMC
June 2013