Search Results - "Reutter HM"

Centralization as the key survival benefit in acute neonatal surgery.

Authors: Besendörfer M Günster S Linz K et al.

Source: Frontiers in pediatrics [Front Pediatr] 2024 Mar 14; Vol. 12, pp. 1382000. Date of Electronic Publication: 2024 Mar 14 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.

Authors: Kalanithy JC Mingardo E Stegmann JD et al.

Source: Journal of medical genetics [J Med Genet] 2025 Jan 27; Vol. 62 (2), pp. 126-137. Date of Electronic Publication: 2025 Jan 27.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Authors: Qiao L Welch CL Hernan R et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2362-2381. Date of Electronic Publication: 2024 Sep 26.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Successful ECMO therapy in a child with COVID-19-associated ARDS and acute lymphoblastic leukemia.

Authors: Ebach F Hainmann I Eis-Hübinger AM et al.

Source: Pediatric blood & cancer [Pediatr Blood Cancer] 2021 Sep; Vol. 68 (9), pp. e29100. Date of Electronic Publication: 2021 May 22.

Publication Type: Letter; Comment

Journal Info: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

The Role of De Novo Variants in Formation of Human Anorectal Malformations.

Authors: Dworschak GC van Rooij IALM Reutter HM

Source: Genes [Genes (Basel)] 2021 Aug 24; Vol. 12 (9). Date of Electronic Publication: 2021 Aug 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

Authors: Dworschak GC Reutter HM Ludwig M

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Apr 09; Vol. 16 (1), pp. 167. Date of Electronic Publication: 2021 Apr 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

PKD1L1 Is Involved in Congenital Chylothorax.

Authors: Whitchurch JB Schneider S Hilger AC et al.

Source: Cells [Cells] 2024 Jan 12; Vol. 13 (2). Date of Electronic Publication: 2024 Jan 12.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

Authors: Kolvenbach CM Felger T Schierbaum L et al.

Source: Journal of medical genetics [J Med Genet] 2023 Jun; Vol. 60 (6), pp. 587-596. Date of Electronic Publication: 2022 Nov 15.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.

Authors: Brosens E Peters NCJ van Weelden KS et al.

Source: Frontiers in pediatrics [Front Pediatr] 2022 Feb 03; Vol. 9, pp. 800915. Date of Electronic Publication: 2022 Feb 03 (Print Publication: 2021).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Genetic Counseling for Birth Defects.

Authors: Reutter HM; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.

Source: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie [Eur J Pediatr Surg] 2021 Dec; Vol. 31 (6), pp. 467. Date of Electronic Publication: 2021 Dec 15.

Publication Type: Journal Article

Journal Info: Publisher: Thieme Country of Publication: United States NLM ID: 9105263 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-359X (Electronic) Linking ISSN: 09397248 NLM ISO Abbreviation: Eur J Pediatr Surg Subsets: MEDLINE

A Prevalence Estimation of Exstrophy and Epispadias in Germany From Public Health Insurance Data.

Authors: Ebert AK Zwink N Reutter HM et al.

Source: Frontiers in pediatrics [Front Pediatr] 2021 Oct 26; Vol. 9, pp. 648414. Date of Electronic Publication: 2021 Oct 26 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.

Authors: Kohl S Chen J Vivante A et al.

Source: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2016 Aug; Vol. 31 (8), pp. 1280-3. Date of Electronic Publication: 2016 Jan 29.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.

Authors: Bagci S Brosens E Tibboel D et al.

Source: European journal of pediatrics [Eur J Pediatr] 2016 Jun; Vol. 175 (6), pp. 825-31. Date of Electronic Publication: 2016 Mar 16.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

Authors: Hwang DY Kohl S Fan X et al.

Source: Human genetics [Hum Genet] 2015 Aug; Vol. 134 (8), pp. 905-16. Date of Electronic Publication: 2015 May 31.

Publication Type: Clinical Trial; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Lessons Learned from CNV Analysis of Major Birth Defects.

Authors: Hilger AC Dworschak GC Reutter HM

Source: International journal of molecular sciences [Int J Mol Sci] 2020 Nov 03; Vol. 21 (21). Date of Electronic Publication: 2020 Nov 03.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

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

Authors: Connaughton DM Dai R Owen DJ et al.

Source: American journal of human genetics [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 727-742. Date of Electronic Publication: 2020 Sep 04.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Scimitar syndrome in a case with VACTERL association.

Authors: Fritz CJ Reutter HM Herberg U

Source: Cardiology in the young [Cardiol Young] 2015 Mar; Vol. 25 (3), pp. 606-9. Date of Electronic Publication: 2014 Jun 06.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

A classic twin study of isolated gastroschisis.

Authors: Schulz AC Stressig R Ritgen J et al.

Source: Fetal and pediatric pathology [Fetal Pediatr Pathol] 2012 Oct; Vol. 31 (5), pp. 324-30. Date of Electronic Publication: 2012 Mar 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review; Twin Study

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: MEDLINE

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

Authors: van de Putte R Dworschak GC Brosens E et al.

Source: Frontiers in pediatrics [Front Pediatr] 2020 Jun 23; Vol. 8, pp. 310. Date of Electronic Publication: 2020 Jun 23 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Treatment Strategies and Outcome of the Exstrophy-Epispadias Complex in Germany: Data From the German CURE-Net.

Authors: Ebert AK Zwink N Reutter HM et al.

Source: Frontiers in pediatrics [Front Pediatr] 2020 May 19; Vol. 8, pp. 174. Date of Electronic Publication: 2020 May 19 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE