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H Reutter

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Articles 22
Citations 150
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Recent Articles
1.
Alves C, Sherbini O, DArco F, Steel D, Kurian M, Radio F, et al.
AJNR Am J Neuroradiol . 2022 Jun; 43(7):1048-1053. PMID: 35772801
Background And Purpose: Pathogenic somatic variants affecting the genes () are extensively linked to the process of oncogenesis, in particular related to central nervous system tumors in children. Recently, germline...
2.
Hoebel A, Drichel D, Van de Vorst M, Bohmer A, Sivalingam S, Ishorst N, et al.
J Dent Res . 2017 Aug; 96(11):1314-1321. PMID: 28767323
Nonsyndromic cleft palate only (nsCPO) is a facial malformation that has a livebirth prevalence of 1 in 2,500. Research suggests that the etiology of nsCPO is multifactorial, with a clear...
3.
Busch A, Zarkovic M, Lowe C, Jankofsky M, Ganschow R, Buers I, et al.
Clin Genet . 2016 Dec; 92(1):104-108. PMID: 27976805
We here report a family from Libya with three siblings suffering from early onset achalasia born to healthy parents. We analyzed roughly 5000 disease-associated genes by a next-generation sequencing (NGS)...
4.
Suzuki K, Matsumaru D, Matsushita S, Murashima A, Ludwig M, Reutter H, et al.
Clin Genet . 2016 Sep; 91(2):247-253. PMID: 27649475
The abnormalities in the urogenital organs are frequently observed as human developmental diseases. Among such diseases, the defects in the upper part of external genitalia are rather rare named epispadias....
5.
Dworschak G, Cretolle C, Hilger A, Engels H, Korsch E, Reutter H, et al.
Clin Genet . 2016 Aug; 91(5):661-671. PMID: 27549440
Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived...
6.
Zwink N, Choinitzki V, Baudisch F, Holscher A, Boemers T, Turial S, et al.
Dis Esophagus . 2015 Nov; 29(8):1032-1042. PMID: 26541887
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are...
7.
Zink A, Wohlleber E, Engels H, Rodningen O, Ravn K, Heilmann S, et al.
Mol Syndromol . 2014 Apr; 5(2):65-75. PMID: 24715853
Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and...
8.
Ludwig K, Bohmer A, Rubini M, Mossey P, Herms S, Nowak S, et al.
J Dent Res . 2014 Feb; 93(4):376-81. PMID: 24563486
Nonsyndromic orofacial clefting (nsOFC) is a common, complex congenital disorder. The most frequent forms are nonsyndromic cleft lip with or without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO)....
9.
Reutter H, Ludwig M
Mol Syndromol . 2013 May; 4(1-2):16-9. PMID: 23653572
The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb...
10.
Ebert A, Reutter H, Neissner C, Rosch W
Klin Padiatr . 2012 Dec; 224(7):455-60. PMID: 23203343
Today, young individuals with rare congenital anomalies as the Exstrophy-Epispadias-Complex (EEC) are mostly monitored interdisciplinary with a high standard of care and enthusiasm during childhood. However, when growing up through...