M J M Nowaczyk
Overview
Explore the profile of M J M Nowaczyk including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
178
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0
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Recent Articles
1.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Jul;
32(8):1032.
PMID: 39060653
No abstract available.
2.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):928-937.
PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
3.
Tan C, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk M, et al.
Clin Genet
. 2015 Feb;
89(4):478-483.
PMID: 25693842
Genetic testing for non-specific intellectual disability (ID) presents challenges in daily clinical practice. Historically, the focus of the genetic elucidation of non-specific ID has been on genes on the X...
4.
Nowaczyk M, Thompson B, Zeesman S, Moog U, Sanchez-Lara P, Magoulas P, et al.
Clin Genet
. 2013 Feb;
85(2):138-46.
PMID: 23379592
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial...
5.
Nowaczyk M, Huggins M, Fleming A, Mohide P
Am J Med Genet A
. 2010 Jul;
152A(8):2029-33.
PMID: 20635404
The objective of our article is to illustrate the earliest prenatal sonographic diagnosis of femoral-facial syndrome (FFS) and to illustrate the spectrum of clinical manifestations of this condition. We present...
6.
Koolen D, Sharp A, Hurst J, Firth H, Knight S, Goldenberg A, et al.
J Med Genet
. 2008 Jul;
45(11):710-20.
PMID: 18628315
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report...
7.
Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, et al.
Eur J Med Genet
. 2006 Feb;
49(6):499-504.
PMID: 16497572
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations in the DHCR7 gene. Previous studies estimated the prevalence of SLOS between 1 in 10,000 to...
8.
Jezela-Stanek A, Malunowicz E, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, et al.
Clin Genet
. 2006 Feb;
69(1):77-85.
PMID: 16451140
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC...
9.
Correa-Cerro L, Wassif C, Waye J, Krakowiak P, Cozma D, Dobson N, et al.
J Med Genet
. 2005 Apr;
42(4):350-7.
PMID: 15805162
No abstract available.
10.
Yatsenko S, Cheung S, Scott D, Nowaczyk M, Tarnopolsky M, Naidu S, et al.
J Med Genet
. 2005 Apr;
42(4):328-35.
PMID: 15805160
No abstract available.