Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 6

Results: 18

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 722, doi. 10.1111/cge.14066

By:

Saida, Ken;
Tamaoki, Junya;
Sasaki, Masayuki;
Haniffa, Muzhirah;
Koshimizu, Eriko;
Sengoku, Toru;
Maeda, Hiroki;
Kikuchi, Masahiro;
Yokoyama, Haruna;
Sakamoto, Masamune;
Iwama, Kazuhiro;
Sekiguchi, Futoshi;
Hamanaka, Kohei;
Fujita, Atsushi;
Mizuguchi, Takeshi;
Ogata, Kazuhiro;
Miyake, Noriko;
Miyatake, Satoko;
Kobayashi, Makoto;
Matsumoto, Naomichi

Publication type:

Article

Bi‐allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 731, doi. 10.1111/cge.14067

By:

Ma, Cong;
Wu, Huan;
Zhu, Damin;
Wang, Ying;
Shen, Qunshan;
Cheng, Huiru;
Zhang, Junqiang;
Geng, Hao;
Liu, Yiyuan;
He, Xiaojin;
Tao, Fangbiao;
Cao, Yunxia;
Xu, Xiaofeng

Publication type:

Article

Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 713, doi. 10.1111/cge.14065

By:

Sun, Feng;
Zhang, Rui‐Jia;
Cheng, Feng;
Fang, Ya;
Yang, Rui‐Meng;
Ye, Xiao‐Ping;
Han, Bing;
Zhao, Shuang‐Xia;
Dong, Mei;
Song, Huai‐Dong

Publication type:

Article

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 766, doi. 10.1111/cge.14061

By:

van der Ven, Amelie T.;
Johannsen, Jessika;
Kortüm, Fanny;
Wagner, Matias;
Tsiakas, Konstantinos;
Bierhals, Tatjana;
Lessel, Davor;
Herget, Theresia;
Kloth, Katja;
Lisfeld, Jasmin;
Scholz, Tasja;
Obi, Nadia;
Wortmann, Saskia;
Prokisch, Holger;
Kubisch, Christian;
Denecke, Jonas;
Santer, René;
Hempel, Maja

Publication type:

Article

The Thai reference exome (T‐REx) variant database.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 703, doi. 10.1111/cge.14060

By:

Shotelersuk, Vorasuk;
Wichadakul, Duangdao;
Ngamphiw, Chumpol;
Srichomthong, Chalurmpon;
Phokaew, Chureerat;
Wilantho, Alisa;
Pakchuen, Sujiraporn;
Nakhonsri, Vorthunju;
Shaw, Philip James;
Wasitthankasem, Rujipat;
Piriyapongsa, Jittima;
Wangkumhang, Pongsakorn;
Assawapitaksakul, Adjima;
Chetruengchai, Wanna;
Lapphra, Keswadee;
Khuninthong, Athiphat;
Makarawate, Pattarapong;
Suphapeetiporn, Kanya;
Mahasirimongkol, Surakameth;
Satproedprai, Nusara

Publication type:

Article

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 758, doi. 10.1111/cge.14059

By:

Sczakiel, Henrike Lisa;
Hülsemann, Wiebke;
Holtgrewe, Manuel;
Abad‐Perez, Angela Teresa;
Elsner, Jonas;
Schwartzmann, Sarina;
Horn, Denise;
Spielmann, Malte;
Mundlos, Stefan;
Mensah, Martin Atta

Publication type:

Article

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 775, doi. 10.1111/cge.14052

By:

Nolan, Daniel K.;
Chaudhari, Bimal;
Franklin, Samuel J.;
Wijeratne, Saranga;
Pfau, Ruthann;
Mihalic Mosher, Theresa;
Crist, Erin;
McBride, Kim L.;
White, Peter;
Wilson, Richard K.;
Hickey, Scott E.;
Koboldt, Daniel C.

Publication type:

Article

Molecular autopsy by proxy in preconception counseling.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049

By:

Ali Alghamdi, Malak;
Alrasheedi, Ameinah;
Alghamdi, Esra;
Adly, Nouran;
AlAali, Wajeih Y.;
Alhashem, Amal;
Alshahrani, Abdulaziz;
Shamseldin, Hanan;
Alkuraya, Fowzan S.;
Alfadhel, Majid

Publication type:

Article

A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 773, doi. 10.1111/cge.14048

By:

Yuan, Zhuang‐Zhuang;
Wang, Chen‐Yu;
Jin, Jie‐Yuan;
Sheng, Yue;
Zhao, Mei‐Fang;
Fan, Liang‐Liang;
Zhang, Ai‐Qian

Publication type:

Article

Diagnostic yield of genetic testing in 324 infants with hypotonia.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 752, doi. 10.1111/cge.14057

By:

Sharma, Sonal;
Repnikova, Elena;
Noel‐MacDonnell, Janelle R.;
LePichon, Jean‐Baptiste

Publication type:

Article

Novel bi‐allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 777, doi. 10.1111/cge.14056

By:

Yu, Hao;
Wei, Qiao;
Luo, Wen‐Jiao;
Wu, Zhi‐Ying

Publication type:

Article

Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 743, doi. 10.1111/cge.14055

By:

Damásio, Joana;
Santos, Mariana;
Samões, Raquel;
Araújo, Maria;
Macedo, Mafalda;
Sardoeira, Ana;
Cavaco, Sara;
Freitas, Joel;
Barros, José;
Oliveira, Jorge;
Sequeiros, Jorge

Publication type:

Article

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054

By:

Reumers, Stacha F. I.;
Erasmus, Corrie E.;
Bouman, Karlijn;
Pennings, Maartje;
Schouten, Meyke;
Kusters, Benno;
Duijkers, Floor A. M.;
van der Kooi, Anneke;
Jaeger, Bregje;
Verschuuren‐Bemelmans, Corien C.;
Faber, Catharina G.;
van Engelen, Baziel G.;
Kamsteeg, Erik‐Jan;
Jungbluth, Heinz;
Voermans, Nicol C.

Publication type:

Article

Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 748, doi. 10.1111/cge.14053

By:

Kotecha, Udhaya;
Mistri, Mehul;
Shah, Nidhi;
Shah, Parth S.;
Gupta, Vandana A.

Publication type:

Article

A CELSR1 variant in a patient with pulmonary arterial hypertension.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 771, doi. 10.1111/cge.14046

By:

Eyries, Mélanie;
Girerd, Barbara;
Savale, Laurent;
Soubrier, Florent;
Humbert, Marc;
Montani, David

Publication type:

Article

Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step‐up.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 659, doi. 10.1111/cge.14019

By:

Mahmood, Arif;
Shah, Abid Ali;
Umair, Muhammad;
Wu, Yiming;
Khan, Amjad

Publication type:

Article

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 647, doi. 10.1111/cge.14010

By:

Klapwijk, Jasmijn E.;
Srebniak, Malgorzata I.;
Go, Attie T. J. I.;
Govaerts, Lutgarde C. P.;
Lewis, Celine;
Hammond, Jennifer;
Hill, Melissa;
Lou, Stina;
Vogel, Ida;
Ormond, Kelly E.;
Diderich, Karin E. M.;
Brüggenwirth, Hennie T.;
Riedijk, Sam R.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 100, n. 6, p. 645, doi. 10.1111/cge.13788
Publication type:: Article