Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 6

Results: 18

Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb‐Girdel Muscular Dystropy Model.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 663, doi. 10.1111/cge.14330

By:

Ma, Hou‐Shi;
Gong, Xiu‐Li;
Li, Wen‐Xiu;
Cai, Qin;
Chen, Yan‐Wen;
Guo, Xin‐Bing;
Ren, Zhao‐Rui;
Zeng, Fanyi;
Yan, Jing‐Bin

Publication type:

Article

HRAS‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 709, doi. 10.1111/cge.14323

By:

Beyens, Aude;
Lietaer, Charlotte;
Claes, Kathleen;
De Baere, Elfride;
Goeteyn, Marleen;
Lerut, Bob;
Syryn, Hannes;
Vanakker, Olivier;
Van der Meulen, Joni;
Vanwalleghem, Lieve;
Callewaert, Bert

Publication type:

Article

Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 672, doi. 10.1111/cge.14325

By:

Cope, Heidi;
Lincoln‐Boyea, Beth;
Gwaltney, Angela You;
Biesecker, Barbara B.;
Moultrie, Rebecca;
Alexander, Amir A.;
King, Nancy M. P.;
Check, Jennifer;
Corbo, Allyson;
Tzeng, Janice;
Porter, Katherine Ackerman;
Peay, Holly L.

Publication type:

Article

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 655, doi. 10.1111/cge.14329

By:

Zhong, Lin;
Gao, Xiaolan;
Wang, Yu;
Qiu, Wenjuan;
Han, Lianshu;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 704, doi. 10.1111/cge.14322

By:

Guo, Dong‐chuan;
Duan, Xueyan;
Mimnagh, Kathleen;
Cecchi, Alana C.;
Marin, Isabella C.;
Yu, Yang;
Velasco, Walter V.;
Lee, Kwanghyuk;
Zhu, Xue;
Murdock, David R.;
Leal, Suzanne M.;
Wheeler, Marsha M.;
Smith, Josh;
Bamshad, Michael J.;
Milewicz, Dianna M.

Publication type:

Article

Progress on the study of Popeye domain‐containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 617, doi. 10.1111/cge.14318

By:

Sun, Chen‐Chen;
Zhao, Zhe;
Peng, Xi‐Yang;
Zheng, Lan;
Tang, Chang‐Fa

Publication type:

Article

Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 681, doi. 10.1111/cge.14303

By:

Leffler, Melanie;
Christie, Louise;
Hackett, Anna;
Bennetts, Bruce;
Goel, Himanshu;
Amor, David J.;
Peters, Greg B.;
Field, Michael;
Dudding‐Byth, Tracy

Publication type:

Article

Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 625, doi. 10.1111/cge.14319

By:

Zhozhikov, Leonid;
Sukhomyasova, Aitalina;
Gurinova, Elizaveta;
Nogovicina, Anna;
Vasilev, Filipp;
Maksimova, Nadezhda

Publication type:

Article

The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 720, doi. 10.1111/cge.14301

By:

Yunis, Juan J.;
Yunis, Luz K.

Publication type:

Article

Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 644, doi. 10.1111/cge.14316

By:

Weiss, Katharina J.;
Berger, Ursula;
Haider, Maliha;
Wagner, Matias;
Märtner, E. M. Charlotte;
Regenauer‐Vandewiele, Stephanie;
Lotz‐Havla, Amelie;
Schuhmann, Elfriede;
Röschinger, Wulf;
Maier, Esther M.

Publication type:

Article

Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 699, doi. 10.1111/cge.14312

By:

Faridi, Rabia;
Yousaf, Rizwan;
Gu, Shoujun;
Inagaki, Sayaka;
Turriff, Amy E.;
Pelstring, Keith;
Guan, Bin;
Naik, Amelia;
Griffith, Andrew J.;
Adadey, Samuel Mawuli;
Aboagye, Elvis Twumasi;
Awandare, Gordon A.;
Morell, Robert J.;
Tsilou, Ekaterini;
Noyes, Amanda G.;
Sulmonte, Laura A. G.;
Wonkam, Ambroise;
Schrauwen, Isabelle;
Leal, Suzanne M.;
Azaiez, Hela

Publication type:

Article

Systematic evaluation of narrow‐sense validity of polygenic risk score for prostate cancer in a Chinese prostate biopsy cohort.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 636, doi. 10.1111/cge.14315

By:

Wu, Yishuo;
Ruan, Xiaohao;
Gao, Peng;
Da, Huang;
Fang, Zujun;
Xu, Danfeng;
Jiang, Haowen;
Ding, Qiang;
Lin, Xiaoling;
Lu, Daru;
Na, Rong

Publication type:

Article

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 693, doi. 10.1111/cge.14305

By:

Dirix, Marie;
Gribouval, Olivier;
Arrondel, Christelle;
Benjelloun, Saadia;
Boyer, Olivia;
Charbit, Marina;
Antignac, Corinne;
Heidet, Laurence;
Dorval, Guillaume

Publication type:

Article

DNA methylation signature classification of rare disorders using publicly available methylation data.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 688, doi. 10.1111/cge.14304

By:

Hildonen, Mathis;
Ferilli, Marco;
Hjortshøj, Tina Duelund;
Dunø, Morten;
Risom, Lotte;
Bak, Mads;
Ek, Jakob;
Møller, Rikke S.;
Ciolfi, Andrea;
Tartaglia, Marco;
Tümer, Zeynep

Publication type:

Article

DKK1 is a strong candidate for mesiodens and taurodontism.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 714, doi. 10.1111/cge.14295

By:

Kantaputra, Piranit;
Jatooratthawichot, Peeranat;
Kottege, Naomi;
Anthonappa, Robert P.;
Kaewgahya, Massupa;
Tongsima, Sissades;
Ngamphiw, Chumpol;
Ketudat Cairns, James R.;
Predes, Danilo;
He, Xi

Publication type:

Article

A progressive KY myopathy could be caused by a missense pathogenic variant.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 723, doi. 10.1111/cge.14302

By:

Uhrova‐Meszarosova, Anna;
Vlckova, Marketa;
Rennerova, Ladislava;
Haberlova, Jana;
Zamecnik, Josef;
Seeman, Pavel;
Safka‐Brozkova, Dana

Publication type:

Article

Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 717, doi. 10.1111/cge.14299

By:

Ross, Donald A.;
Berland, Siren;
Helland, Christian A.;
Pettersson, David R.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 103, n. 6, p. 615, doi. 10.1111/cge.14156
Publication type:: Article