Publications:

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[Intracranial hypotension syndrome in a pediatric patient with Marfan syndrome].

Anales Del Sistema Sanitario De Navarra

Moreno Sánchez, Amelia A; Molina Herranz, David D; Sánchez Andrés, Armando A; Monge Galindo, Lorena L

Publication Date: 2023-04-25

Variant appearance in text: FBN1: 2243G>A

PubMed Link: 37203318

Variant Present in the following documents:

• assn-46-01-e1031.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FBN1: 2243G>A; Cys748Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance

Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V

Publication Date: 2023-03

Variant appearance in text: FBN1: 2243G>A; Cys748Tyr

PubMed Link: 36635046

Variant Present in the following documents:

• LSA-2022-01673_TableS2.xlsx, sheet 1

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Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Molecular Genetics & Genomic Medicine

Xu, Shijun S; Li, Lei L; Fu, Yuwei Y; Wang, Xin X; Sun, Hairui H; Wang, Jianbin J; Han, Lu L; Wu, Zining Z; Liu, Yongmin Y; Zhu, Junming J; Sun, Lizhong L; Lan, Feng F; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-01

Variant appearance in text: FBN1: C748Y

PubMed Link: 31830381

Variant Present in the following documents:

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 2243G>A; C748Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

International Journal Of Clinical And Experimental Medicine

Jaradat, Saied A SA; Abujamous, Lama A LA; Al-Hawamdeh, Ali A AA; Alawneh, Khaldoon M KM; Rawashdeh, Tamara A TA; Jaradat, Zaher M ZM

Publication Date: 2015

Variant appearance in text: FBN1: 2243G>A; Cys748Tyr

PubMed Link: 26770496

Variant Present in the following documents:

• Main text

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