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Michael Leipoldt

Explore the profile of Michael Leipoldt including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 117
Followers 0
Related Specialties
Genetics
Neurology
Pediatrics
Top 10 Co-Authors
Wiktor Borozdin
Jurgen Kohlhase
Judith Fischer
Michael J Bamshad
Mark Lathrop
Katharina Steinmann
Karim D Kalache
Deborah Morris-Rosendahl
Koenraad Devriendt
Sarah Apeshiotis
Published In
Am J Med Genet A
Hum Mutat
Mol Syndromol
J Child Neurol
PLoS Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature
Picker-Minh S, Hartenstein S, Proquitte H, Frohler S, Raile V, Kraemer N, et al.
J Child Neurol . 2017 Feb; 32(3):334-340. PMID: 28193110
Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging,...
2.
Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome
Hassfurther A, Komini E, Fischer J, Leipoldt M
Mol Syndromol . 2016 Mar; 6(5):222-8. PMID: 26997942
The 15q13.3 microdeletion is a recurrent CNV, presumably mediated by NAHR between segmental duplications in chromosome 15. The 15q13.3 deletion and duplication are associated with a wide range of clinical...
3.
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans
Radner F, Marrakchi S, Kirchmeier P, Kim G, Ribierre F, Kamoun B, et al.
PLoS Genet . 2013 Jun; 9(6):e1003536. PMID: 23754960
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three...
4.
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay
Borozdin W, Graham Jr J, Bohm D, Bamshad M, Spranger S, Burke L, et al.
Hum Mutat . 2007 Jul; 28(8):830. PMID: 17623483
Okihiro syndrome results from truncating mutations in the SALL4 locus on the chromosome 20q13.13-q13.2. Deletions of the whole SALL4 coding region as well as single exon deletions are also a...
5.
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes
Borozdin W, Bravo-Ferrer Acosta A, Seemanova E, Leipoldt M, Bamshad M, Unger S, et al.
Am J Med Genet A . 2006 Aug; 140A(17):1880-6. PMID: 16892408
No abstract available.
6.
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, et al.
Hum Mutat . 2006 Jan; 27(2):211-2. PMID: 16429401
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited disorder characterized by ear, anal, limb, and renal malformations, and results from mutations in the gene SALL1. All SALL1 mutations previously found...
7.
Chromosomal mosaicism in familial reciprocal translocation carriers: necessity of karyotyping different tissues
Dufke A, Leipoldt M, Enders H
Am J Med Genet A . 2003 Aug; 121A(3):292. PMID: 12923876
No abstract available.