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High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1391, doi. 10.1007/s00439-019-02084-8
By:
- Padula, Stephanie L.;
- Anand, Deepti;
- Hoang, Thanh V.;
- Chaffee, Blake R.;
- Liu, Lin;
- Liang, Chun;
- Lachke, Salil A.;
- Robinson, Michael L.
Publication type:
Article
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1379, doi. 10.1007/s00439-019-02083-9
By:
- Su, Shih-Chi;
- Chang, Lun-Ching;
- Lin, Chiao-Wen;
- Chen, Mu-Kuan;
- Yu, Chun-Ping;
- Chung, Wen-Hung;
- Yang, Shun-Fa
Publication type:
Article
The genetic landscape of the human solute carrier (SLC) transporter superfamily.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1359, doi. 10.1007/s00439-019-02081-x
By:
- Schaller, Lena;
- Lauschke, Volker M.
Publication type:
Article
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1331, doi. 10.1007/s00439-019-02078-6
By:
- De Lillo, Antonella;
- De Angelis, Flavio;
- Di Girolamo, Marco;
- Luigetti, Marco;
- Frusconi, Sabrina;
- Manfellotto, Dario;
- Fuciarelli, Maria;
- Polimanti, Renato
Publication type:
Article
First genome-wide association study of non-severe malaria in two birth cohorts in Benin.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1341, doi. 10.1007/s00439-019-02079-5
By:
- Milet, Jacqueline;
- Boland, Anne;
- Luisi, Pierre;
- Sabbagh, Audrey;
- Sadissou, Ibrahim;
- Sonon, Paulin;
- Domingo, Nadia;
- Palstra, Friso;
- Gineau, Laure;
- Courtin, David;
- Massougbodji, Achille;
- Garcia, André;
- Deleuze, Jean-François;
- Perdry, Hervé
Publication type:
Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
By:
- Llaci, Lorida;
- Ramsey, Keri;
- Belnap, Newell;
- Claasen, Ana M.;
- Balak, Chris D.;
- Szelinger, Szabolcs;
- Jepsen, Wayne M.;
- Siniard, Ashley L.;
- Richholt, Ryan;
- Izat, Tyler;
- Naymik, Marcus;
- De Both, Matt;
- Piras, Ignazio S.;
- Craig, David W.;
- Huentelman, Matthew J.;
- Narayanan, Vinodh;
- Schrauwen, Isabelle;
- Rangasamy, Sampathkumar
Publication type:
Article
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1323, doi. 10.1007/s00439-019-02076-8
By:
- Gutierrez-Rodrigues, Fernanda;
- Masri, Nohad;
- Chouery, Eliane;
- Diamond, Carrie;
- Jalkh, Nadine;
- Vicente, Alana;
- Kajigaya, Sachiko;
- Abillama, Fayez;
- Bejjani, Noha;
- Serhal, Wassim;
- Calado, Rodrigo T.;
- Young, Neal S.;
- Farhat, Hussein;
- Coussa, Marie Louise
Publication type:
Article
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1275, doi. 10.1007/s00439-019-02068-8
By:
- Moisan, Stéphanie;
- Le Nabec, Anaïs;
- Quillévéré, Alicia;
- Le Maréchal, Cédric;
- Férec, Claude
Publication type:
Article
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1267, doi. 10.1007/s00439-019-02066-w
By:
- Fonseca, Dora Janeth;
- Caro, Luz Adriana;
- Sierra-Díaz, Diana Carolina;
- Serrano-Reyes, Carlos;
- Londoño, Olga;
- Suárez, Yohjana Carolina;
- Mateus, Heidi Eliana;
- Bolívar-Salazar, David;
- Ramírez, Ana Francisca;
- de-la-Torre, Alejandra;
- Laissue, Paul
Publication type:
Article
Arteriovenous malformation associated with a HRAS mutation.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1419, doi. 10.1007/s00439-019-02072-y
By:
- Konczyk, Dennis J.;
- Goss, Jeremy A.;
- Smits, Patrick J.;
- Huang, August Y.;
- Al-Ibraheemi, Alyaa;
- Sudduth, Christopher L.;
- Warman, Matthew L.;
- Greene, Arin K.
Publication type:
Article
CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1217, doi. 10.1007/s00439-019-02071-z
By:
- Li, Xiao-Fei;
- Zhou, Yong-Wei;
- Cai, Peng-Fei;
- Fu, Wei-Cong;
- Wang, Jin-Hua;
- Chen, Jin-Yang;
- Yang, Qi-Ning
Publication type:
Article
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1287, doi. 10.1007/s00439-019-02070-0
By:
- Salokannel, Marjut;
- Tarkkala, Heta;
- Snell, Karoliina
Publication type:
Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
By:
- Horga, Alejandro;
- Woodward, Catherine E.;
- Mills, Alberto;
- Pareés, Isabel;
- Hargreaves, Iain P.;
- Brown, Ruth M.;
- Bugiardini, Enrico;
- Brooks, Tony;
- Manole, Andreea;
- Remzova, Elena;
- Rahman, Shamima;
- Reilly, Mary M.;
- Houlden, Henry;
- Sweeney, Mary G.;
- Brown, Garry K.;
- Polke, James M.;
- Gago, Federico;
- Parton, Matthew J.;
- Pitceathly, Robert D. S.;
- Hanna, Michael G.
Publication type:
Article
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1301, doi. 10.1007/s00439-019-02073-x
By:
- Szafranski, Przemyslaw;
- Liu, Qian;
- Karolak, Justyna A.;
- Song, Xiaofei;
- de Leeuw, Nicole;
- Faas, Brigitte;
- Gerychova, Romana;
- Janku, Petr;
- Jezova, Marta;
- Valaskova, Iveta;
- Gibbs, Kathleen A.;
- Surrey, Lea F.;
- Poisson, Virginie;
- Bérubé, Denis;
- Oligny, Luc L.;
- Michaud, Jacques L.;
- Popek, Edwina;
- Stankiewicz, Paweł
Publication type:
Article
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1259, doi. 10.1007/s00439-019-02065-x
By:
- Okur, Volkan;
- Watschinger, Katrin;
- Niyazov, Dmitriy;
- McCarrier, Julie;
- Basel, Donald;
- Hermann, Martin;
- Werner, Ernst R.;
- Chung, Wendy K.
Publication type:
Article
Long-read sequencing in deciphering human genetics to a greater depth.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1201, doi. 10.1007/s00439-019-02064-y
By:
- Midha, Mohit K.;
- Wu, Mengchu;
- Chiu, Kuo-Ping
Publication type:
Article
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
By:
- Broeks, Melissa H.;
- Shamseldin, Hanan E.;
- Alhashem, Amal;
- Hashem, Mais;
- Abdulwahab, Firdous;
- Alshedi, Tarfa;
- Alobaid, Iman;
- Zwartkruis, Fried;
- Westland, Denise;
- Fuchs, Sabine;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.;
- Alkuraya, Fowzan S.
Publication type:
Article
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1237, doi. 10.1007/s00439-019-02062-0
By:
- Milne, Richard;
- Morley, Katherine I.;
- Howard, Heidi;
- Niemiec, Emilia;
- Nicol, Dianne;
- Critchley, Christine;
- Prainsack, Barbara;
- Vears, Danya;
- Smith, James;
- Steed, Claire;
- Bevan, Paul;
- Atutornu, Jerome;
- Farley, Lauren;
- Goodhand, Peter;
- Thorogood, Adrian;
- Kleiderman, Erika;
- Middleton, Anna
Publication type:
Article
Rare variants in FANCA induce premature ovarian insufficiency.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1227, doi. 10.1007/s00439-019-02059-9
By:
- Yang, Xi;
- Zhang, Xiaojin;
- Jiao, Jiao;
- Zhang, Feng;
- Pan, Yuncheng;
- Wang, Qiqi;
- Chen, Qing;
- Cai, Baozhu;
- Tang, Shuyan;
- Zhou, Zixue;
- Chen, Siyuan;
- Yin, Hao;
- Fu, Wei;
- Luo, Yang;
- Li, Da;
- Li, Guoqing;
- Shang, Lingyue;
- Yang, Jialing;
- Jin, Li;
- Shi, Qinghua
Publication type:
Article

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