118 related articles for article (PubMed ID: 37529055)
1. A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami.
Fauntleroy-Love KD; Wilson TE; Padem N; Golomb MR
Child Neurol Open; 2023; 10():2329048X231190784. PubMed ID: 37529055
[TBL] [Abstract][Full Text] [Related]
2. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
Ling TT; Sorrentino S
Am J Med Genet A; 2016 Jan; 170A(1):217-9. PubMed ID: 26374271
[TBL] [Abstract][Full Text] [Related]
3. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Imbert-Bouteille M; Mau Them FT; Thevenon J; Guignard T; Gatinois V; Riviere JB; Boland A; Meyer V; Deleuze JF; Sanchez E; Apparailly F; Geneviève D; Willems M
Eur J Med Genet; 2019 Mar; 62(3):161-166. PubMed ID: 30006060
[TBL] [Abstract][Full Text] [Related]
4. Alazami syndrome: the first case of papillary thyroid carcinoma.
Ivanovski I; Caraffi SG; Magnani E; Rosato S; Pollazzon M; Matalonga L; Piana S; Nicoli D; Baldo C; Bernasconi S; Frasoldati A; Zuffardi O; Garavelli L
J Hum Genet; 2020 Jan; 65(2):133-141. PubMed ID: 31656314
[TBL] [Abstract][Full Text] [Related]
5. Further phenotypic delineation of Alazami syndrome.
Al-Hinai A; Al-Hashmi S; Ganesh A; Al-Hashmi N; Al-Saegh A; Al-Mamari W; Al-Murshedi F; Al-Thihli K; Al-Kindi A; Al-Maawali A
Am J Med Genet A; 2022 Aug; 188(8):2485-2490. PubMed ID: 35567578
[TBL] [Abstract][Full Text] [Related]
6. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E; Pérez de la Fuente R; Arteche-López A; Gómez-Cano MLÁ; Quesada-Espinosa JF; Palma Milla C; Lezana Rosales JM; Mayo de Andrés S; Sánchez-Calvín MT; Gómez-Rodríguez MJ; Sierra Tomillo O; Juarez Rufian A; Ramos Gomez P; Herrero-Forte C; Fenollar-Cortés M; Cotarelo-Pérez C; García Ron A; Pérez Rodríguez O; Oancea-Ionescu R; Moreno-García M
Neuropediatrics; 2023 Feb; 54(1):31-36. PubMed ID: 36126956
[TBL] [Abstract][Full Text] [Related]
7. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
Hollink IH; Alfadhel M; Al-Wakeel AS; Ababneh F; Pfundt R; de Man SA; Jamra RA; Rolfs A; Bertoli-Avella AM; van de Laar IM
J Hum Genet; 2016 Mar; 61(3):229-33. PubMed ID: 26607181
[TBL] [Abstract][Full Text] [Related]
8. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
Wojcik MH; Linnea K; Stoler JM; Rappaport L
Am J Med Genet A; 2019 Aug; 179(8):1565-1569. PubMed ID: 31074943
[TBL] [Abstract][Full Text] [Related]
9. Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Das S; Godbole K; Abraham SSC; Ganesan P; Kamdar P; Danda S
Am J Med Genet A; 2021 May; 185(5):1606-1609. PubMed ID: 33569879
[TBL] [Abstract][Full Text] [Related]
10. Novel Mutation in
Kazemi G; Peymani F; Mohseni M; Zare Ashrafi F; Arzhangi S; Ardalani F; Aghakhani Moghaddam F; Kahrizi K; Najmabadi H
Arch Iran Med; 2020 Dec; 23(12):842-847. PubMed ID: 33356342
[TBL] [Abstract][Full Text] [Related]
11. The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness.
Hasler D; Meduri R; Bąk M; Lehmann G; Heizinger L; Wang X; Li ZT; Sement FM; Bruckmann A; Dock-Bregeon AC; Merkl R; Kalb R; Grauer E; Kunstmann E; Zavolan M; Liu MF; Fischer U; Meister G
Mol Cell; 2020 Mar; 77(5):1014-1031.e13. PubMed ID: 32017898
[TBL] [Abstract][Full Text] [Related]
12. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Conti V; Carabalona A; Pallesi-Pocachard E; Parrini E; Leventer RJ; Buhler E; McGillivray G; Michel FJ; Striano P; Mei D; Watrin F; Lise S; Pagnamenta AT; Taylor JC; Kini U; Clayton-Smith J; Novara F; Zuffardi O; Dobyns WB; Scheffer IE; Robertson SP; Berkovic SF; Represa A; Keays DA; Cardoso C; Guerrini R
Brain; 2013 Nov; 136(Pt 11):3378-94. PubMed ID: 24056535
[TBL] [Abstract][Full Text] [Related]
13. [Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].
Yuan L; Zhao P; Sheng Q; Mu W; Xu G; Liu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):860-864. PubMed ID: 37368391
[TBL] [Abstract][Full Text] [Related]
14. Novel compound heterozygous variants in the
Dateki S; Kitajima T; Kihara T; Watanabe S; Yoshiura KI; Moriuchi H
Hum Genome Var; 2018; 5():18014. PubMed ID: 29619239
[TBL] [Abstract][Full Text] [Related]
15. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.
Holohan B; Kim W; Lai TP; Hoshiyama H; Zhang N; Alazami AM; Wright WE; Meyn MS; Alkuraya FS; Shay JW
BMC Genomics; 2016 Oct; 17(Suppl 9):749. PubMed ID: 27766953
[TBL] [Abstract][Full Text] [Related]
16. [Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome].
He F; Xu S; Li Q; Jiang M; Mao X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1089-1092. PubMed ID: 36184089
[TBL] [Abstract][Full Text] [Related]
17. Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.
Riccio MP; D'Andrea G; Sarnataro E; Marino M; Bravaccio C; Albert U
J Med Case Rep; 2021 Oct; 15(1):495. PubMed ID: 34629090
[TBL] [Abstract][Full Text] [Related]
18. Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.
Gana S; Plumari M; Rossi E; Saracino A; Iorio M; Zanaboni MP; Orcesi S; Valente EM
Am J Med Genet A; 2020 Nov; 182(11):2722-2726. PubMed ID: 32888391
[TBL] [Abstract][Full Text] [Related]
19. Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.
McCann MV; Pongonis SJ; Golomb MR; Edwards-Brown M; Christensen CK; Sokol DK
J Child Neurol; 2008 Aug; 23(8):950-3. PubMed ID: 18660478
[TBL] [Abstract][Full Text] [Related]
20. Bilateral periventricular nodular heterotopia with megalencephaly: a case report.
Abe Y; Kobayashi S; Wakusawa K; Tanaka S; Inui T; Yamamoto T; Kunishima S; Haginoya K
J Child Neurol; 2014 Jun; 29(6):818-22. PubMed ID: 23439715
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]