Jorge M Saraiva
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Explore the profile of Jorge M Saraiva including associated specialties, affiliations and a list of published articles.
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20
Citations
494
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Recent Articles
1.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, et al.
Genet Med
. 2024 Dec;
27(3):101348.
PMID: 39737487
Purpose: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental...
2.
Vecchio D, Macchiaiolo M, Gonfiantini M, Panfili F, Petrizzelli F, Liorni N, et al.
Front Genet
. 2024 Dec;
15:1477940.
PMID: 39722796
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549)...
3.
Amato M, Balsells S, Martorell L, Alcala San Martin A, Ansell K, Borresen M, et al.
Eur J Paediatr Neurol
. 2024 Oct;
53:63-72.
PMID: 39413657
Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a...
4.
Teixeira M, Pereira A, Marques M, Saraiva J, Macedo A
Braz J Psychiatry
. 2016 Feb;
38(2):135-40.
PMID: 26870911
Objective: Eating disorders are an increasingly prevalent health problem among adolescent girls. It is well known that biological, psychosocial, and family-related factors interact in the development of this group of...
5.
White J, Mazzeu J, Hoischen A, Jhangiani S, Gambin T, Alcino M, et al.
Am J Hum Genet
. 2015 Mar;
96(4):612-22.
PMID: 25817016
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described....
6.
Thomas A, Williams H, Seto-Salvia N, Bacchelli C, Jenkins D, OSullivan M, et al.
Am J Hum Genet
. 2014 Dec;
95(5):611-21.
PMID: 25439728
Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations...
7.
Beleza-Meireles A, Clayton-Smith J, Saraiva J, Tassabehji M
J Med Genet
. 2014 Aug;
51(10):635-45.
PMID: 25118188
Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is...
8.
9.
Sousa S, Ramos F, Garcia P, Pais R, Paiva C, Beales P, et al.
Am J Med Genet A
. 2014 Feb;
164A(1):10-4.
PMID: 24501761
We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features...
10.
Sousa S, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, et al.
Nat Genet
. 2013 Nov;
46(1):70-6.
PMID: 24241535
Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant...