Patrick Ferreira
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Explore the profile of Patrick Ferreira including associated specialties, affiliations and a list of published articles.
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22
Citations
431
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Recent Articles
1.
Peron A, DArco F, Aldinger K, Smith-Hicks C, Zweier C, Gradek G, et al.
Eur J Hum Genet
. 2024 Oct;
33(3):312-324.
PMID: 39448799
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this,...
2.
Ferreira P, Chahed A, Estevinho L, Seixas N, Costa R, Choupina A
Plants (Basel)
. 2023 Nov;
12(22).
PMID: 38005719
Ink disease is considered one of the most significant causes contributing to the decline of chestnut orchards. The reduced yield of Mill can be attributed to two main species: and...
3.
Ferreira P, Choupina A
Mol Biol Rep
. 2022 Jun;
49(7):7079-7086.
PMID: 35716290
In recent years, the number of tools and techniques that enable genetic material to be added, removed or altered at specific locations in the genome has increased significantly. The objective...
4.
Chang C, Di Donato N, Hackmann K, Argiropoulos B, Ferreira P, Innes A, et al.
Am J Med Genet A
. 2020 Oct;
182(12):3040-3047.
PMID: 33026187
Congenital hiatal hernia (HH) is a rare congenital defect and is often described on a sporadic basis, but familial cases have also been reported. The mechanism of development is not...
5.
Benson M, Plemel D, Freund P, Lewis J, Sass J, Bahr L, et al.
Ophthalmic Genet
. 2020 Sep;
42(1):75-78.
PMID: 32975148
Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations in , a gene encoding the enzyme aspartoacylase. Patients present with macrocephaly, developmental delay, hypotonia, vision impairment and accumulation...
6.
Henderson C, Fink S, Bassyouni H, Argiropoulos B, Brown L, Laha T, et al.
N Engl J Med
. 2019 Mar;
380(12):1150-1157.
PMID: 30893535
A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent severe vitamin D deficiency that did not respond to supplementation. Liquid...
7.
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, et al.
Mol Genet Metab Rep
. 2017 Sep;
13:55-63.
PMID: 28932688
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand...
8.
Bashir R, Dixit A, Goedhart C, Parboosingh J, Innes A, Ferreira P, et al.
Am J Med Genet A
. 2017 Sep;
173(10):i.
PMID: 28921853
The cover image, by Rani A. Bashir et al., is based on the Original Article Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders, DOI: 10.1002/ajmg.a.38355.
9.
Bashir R, Dixit A, Goedhart C, Parboosingh J, Innes A, Ferreira P, et al.
Am J Med Genet A
. 2017 Jul;
173(10):2596-2604.
PMID: 28696035
We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation...
10.
Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, et al.
Mol Genet Metab
. 2017 Mar;
120(4):317-324.
PMID: 28285122
In this report we describe the first human case of hypertryptophanemia confirmed to be due to tryptophan 2,3-dioxygenase deficiency. The underlying etiology was established by sequencing the TDO2 gene, in...