PRZEMYSLAW SZAFRANSKI to Infant
This is a "connection" page, showing publications PRZEMYSLAW SZAFRANSKI has written about Infant.
Connection Strength
0.172
-
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. Eur J Hum Genet. 2013 Nov; 21(11):1304-7.
Score: 0.038
-
Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia. Pediatr Pulmonol. 2023 10; 58(10):2746-2749.
Score: 0.019
-
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV. Mol Genet Genomic Med. 2022 Nov; 10(11):e2062.
Score: 0.018
-
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development. J Med Genet. 2020 05; 57(5):296-300.
Score: 0.015
-
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2019 11; 179(11):2272-2276.
Score: 0.015
-
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Mol Genet Genomic Med. 2019 03; 7(3):e549.
Score: 0.014
-
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. J Pediatr. 2018 03; 194:158-164.e1.
Score: 0.013
-
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.012
-
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013 Jun; 34(6):801-11.
Score: 0.010
-
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.009
-
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.008