Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1718301

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Molecular Genetics & Genomic Medicine

Ferreira, Filipa F; Azevedo, Luísa L; Neiva, Raquel R; Sousa, Carmen C; Fonseca, Helena H; Marcão, Ana A; Rocha, Hugo H; Carmona, Célia C; Ramos, Sónia S; Bandeira, Anabela A; Martins, Esmeralda E; Campos, Teresa T; Rodrigues, Esmeralda E; Garcia, Paula P; Diogo, Luísa L; Ferreira, Ana Cristina AC; Sequeira, Silvia S; Silva, Francisco F; Rodrigues, Luísa L; Gaspar, Ana A; Janeiro, Patrícia P; Amorim, António A; Vilarinho, Laura L

Publication Date: 2021-03

Variant appearance in text: PAH: 441+47C>T; rs1718301

PubMed Link: 33465300

Variant Present in the following documents:

• Main text
• MGG3-9-e1559.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: PAH: 441+47C>T; rs1718301

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: PAH: 441+47C>T; rs1718301

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Jimd Reports

Ho, Gladys G; Alexander, Ian I; Bhattacharya, Kaustuv K; Dennison, Barbara B; Ellaway, Carolyn C; Thompson, Sue S; Wilcken, Bridget B; Christodoulou, John J

Publication Date: 2014

Variant appearance in text: PAH: 441+47C>T

PubMed Link: 24368688

Variant Present in the following documents:

• Main text

View BVdb publication page

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Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults.

Behavioral And Brain Functions : Bbf

Teraishi, Toshiya T; Sasayama, Daimei D; Hori, Hiroaki H; Yamamoto, Noriko N; Fujii, Takashi T; Matsuo, Junko J; Nagashima, Anna A; Kinoshita, Yukiko Y; Hattori, Kotaro K; Ota, Miho M; Fujii, Sayaka S; Kunugi, Hiroshi H

Publication Date: 2013-07-30

Variant appearance in text: rs1718301

PubMed Link: 23898865

Variant Present in the following documents:

• Main text
• 1744-9081-9-30.pdf

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Association study of 182 candidate genes in anorexia nervosa.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Pinheiro, Andrea Poyastro AP; Bulik, Cynthia M CM; Thornton, Laura M LM; Sullivan, Patrick F PF; Root, Tammy L TL; Bloss, Cinnamon S CS; Berrettini, Wade H WH; Schork, Nicholas J NJ; Kaye, Walter H WH; Bergen, Andrew W AW; Magistretti, Pierre P; Brandt, Harry H; Crawford, Steve S; Crow, Scott S; Fichter, Manfred M MM; Goldman, David D; Halmi, Katherine A KA; Johnson, Craig C; Kaplan, Allan S AS; Keel, Pamela K PK; Klump, Kelly L KL; La Via, Maria M; Mitchell, James E JE; Strober, Michael M; Rotondo, Alessandro A; Treasure, Janet J; Woodside, D Blake DB

Publication Date: 2010-07

Variant appearance in text: rs1718301

PubMed Link: 20468064

Variant Present in the following documents:

• Main text

View BVdb publication page

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