Wiktor Borozdin
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Explore the profile of Wiktor Borozdin including associated specialties, affiliations and a list of published articles.
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16
Citations
374
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Recent Articles
1.
Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene
Esden-Tempska Z, Lewczuk A, Tobias E, Borozdin W, Kohlhase J, Sworczak K
J Pediatr Endocrinol Metab
. 2012 May;
25(1-2):147-8.
PMID: 22570964
Determining the precise cause of adrenal insufficiency occurring in infancy is of critical importance for both the correct management of affected children and the provision of correct genetic advice to...
2.
Ramantani G, Kohlhase J, Hertzberg C, Innes A, Engel K, Hunger S, et al.
Arthritis Rheum
. 2010 Feb;
62(5):1469-77.
PMID: 20131292
Objective: Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is characterized by basal ganglia calcifications, loss of white matter, cerebrospinal fluid (CSF) lymphocytosis, and elevated interferon-alpha...
3.
Schlachetzki J, Schmidtke K, Beckervordersandforth J, Borozdin W, Wilhelm C, Hull M, et al.
J Neurol
. 2009 Jul;
256(12):2043-51.
PMID: 19618231
Mutations of the progranulin gene lead to progranulin haploinsufficiency and to frontotemporal lobar degeneration (FTD) with TDP-43 positive inclusions. It is assumed that unknown genetic, epigenetic and environmental factors are...
4.
Sousa S, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, et al.
Am J Med Genet A
. 2008 Oct;
146A(21):2799-803.
PMID: 18837045
Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple,...
5.
Bohm J, Buck A, Borozdin W, Mannan A, Matysiak-Scholze U, Adham I, et al.
Am J Pathol
. 2008 Sep;
173(5):1455-63.
PMID: 18818376
Four homologs to the Drosophila homeotic gene spalt (sal) exist in both humans and mice (SALL1 to SALL4/Sall1 to Sall4, respectively). Mutations in both SALL1 and SALL4 result in the...
6.
Blaumeiser B, Oehl-Jaschkowitz B, Borozdin W, Kohlhase J
Am J Med Genet A
. 2008 Aug;
146A(17):2304-7.
PMID: 18671284
No abstract available.
7.
Unger S, Bohm D, Kaiser F, Kaulfuss S, Borozdin W, Buiting K, et al.
Nat Genet
. 2008 Feb;
40(3):287-9.
PMID: 18297069
We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother-daughter pair. Toe syndactyly, telecanthus and anogenital and renal malformations were present...
8.
Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Poyhonen M, Huoponen K, et al.
Genet Med
. 2007 Dec;
9(10):690-4.
PMID: 18073582
Purpose: Autosomal dominant CHARGE syndrome (OMIM no. 214800) is characterized by choanal atresia or cleft lip or palate, ocular colobomas, cardiovascular malformations, retardation of growth, ear anomalies, and deafness, and...
9.
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...
10.
Bausch B, Borozdin W, Mautner V, Hoffmann M, Boehm D, Robledo M, et al.
J Clin Endocrinol Metab
. 2007 Apr;
92(7):2784-92.
PMID: 17426081
Background: Neurofibromatosis type 1 (NF1) is a pheochromocytoma-associated syndrome. Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope...