Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 4

Results: 17

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 383, doi. 10.1111/cge.14296
By:
- Imagawa, Eri;
- Seyama, Rie;
- Aoi, Hiromi;
- Uchiyama, Yuri;
- Marcarini, Bruno Guimaraes;
- Furquim, Isabel;
- Honjo, Rachel Sayuri;
- Bertola, Debora Romeo;
- Kim, Chong Ae;
- Matsumoto, Naomichi
Publication type:
Article
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 478, doi. 10.1111/cge.14297
By:
- Langeh, Nitika;
- Saluja, Sumedha;
- Ethayathulla, Abdul Samath;
- Jana, Manisha;
- Shukla, Rashmi;
- Palanichamy, Jayanth Kumar;
- Gupta, Neerja
Publication type:
Article
Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 498, doi. 10.1111/cge.14288
By:
- Tao, Chengqiu;
- Zhu, Tingting;
- Tang, Shuyan;
- Lu, Jiaqi;
- Lin, Xiaoqi;
- Li, Xiuqin;
- Liu, Xiaomei;
- Pang, Yicun;
- Zhao, Huan;
- Liang, Jie;
- Zhang, Feng;
- Lu, Xin;
- Zhang, Ling
Publication type:
Article
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 492, doi. 10.1111/cge.14287
By:
- Llauradó, Arnau;
- Rovira‐Moreno, Eulalia;
- Codina‐Solà, Marta;
- Martínez‐Saez, Elena;
- Salvadó, Maria;
- Sanchez‐Tejerina, Daniel;
- Sotoca, Javier;
- López‐Diego, Verónica;
- Restrepo‐Vera, Juan Luis;
- Garcia‐Arumi, Elena;
- Juntas‐Morales, Raul
Publication type:
Article
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 448, doi. 10.1111/cge.14306
By:
- Martínez‐Granero, Francisco;
- Martínez‐Cayuelas, Elena;
- Rodilla, Cristina;
- Núñez‐Moreno, Gonzalo;
- Rodríguez de Alba, Marta;
- Blanco‐Kelly, Fiona;
- Romero, Raquel;
- Minguez, Pablo;
- Ayuso, Carmen;
- Lorda‐Sanchez, Isabel;
- Corton, Marta;
- Almoguera, Berta
Publication type:
Article
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 459, doi. 10.1111/cge.14298
By:
- Li, Li‐Xi;
- Liu, Ying;
- Huang, Jie‐Hong;
- Yang, Yi;
- Pan, You‐Gui;
- Zhang, Xiao‐Long;
- Pan, Li‐Zhen;
- Jin, Ling‐Jing
Publication type:
Article
ROSAH syndrome mimicking chronic uveitis.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 453, doi. 10.1111/cge.14286
By:
- Fardeau, Christine;
- Alafaleq, Munirah;
- Dhaenens, Claire‐Marie;
- Dollfus, Hélène;
- Koné‐Paut, Isabelle;
- Grunewald, Olivier;
- Morel, Jean‐Baptiste;
- Titah, Cherif;
- Saadoun, David;
- Lazeran, Patrice Olivier;
- Meunier, Isabelle
Publication type:
Article
A novel PLS1 c.981+1G>A variant causes autosomal‐dominant hereditary hearing loss in a family.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 413, doi. 10.1111/cge.14283
By:
- Xu, Liangpu;
- Wang, Xinrui;
- Li, Jia;
- Chen, Lingji;
- Wang, Haiwei;
- Xu, Shiyi;
- Zhang, Yanhong;
- Li, Wei;
- Yao, Pengcheng;
- Tan, Meihua;
- Zhou, Si;
- Chen, Meihuan;
- Pan, Yali;
- Chen, Xuemei;
- Chen, Xiaolan;
- Liu, Yunliang;
- Lin, Na;
- Huang, Hailong;
- Cao, Hua
Publication type:
Article
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 466, doi. 10.1111/cge.14294
By:
- Yoshihama, Keisuke;
- Mutai, Hideki;
- Sekimizu, Mariko;
- Ito, Fumihiro;
- Saito, Shin;
- Nakamura, Shintaro;
- Mikoshiba, Takuya;
- Nagai, Ryoto;
- Takebayashi, Akiko;
- Miya, Fuyuki;
- Kosaki, Kenjiro;
- Ozawa, Hiroyuki;
- Matsunaga, Tatsuo
Publication type:
Article
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 401, doi. 10.1111/cge.14291
By:
- Masson, Julie;
- Pebrel‐Richard, Céline;
- Egloff, Matthieu;
- Frétigny, Mathilde;
- Beaumont, Marion;
- Uguen, Kevin;
- Rollat‐Farnier, Pierre‐Antoine;
- Diguet, Flavie;
- Perthus, Isabelle;
- Le Gudayer, Gwenaël;
- Haye, Damien;
- Dupeyron, Marie‐Noëlle Bonnet;
- Putoux, Audrey;
- Raskin‐Champion, Fabienne;
- Till, Marianne;
- Chatron, Nicolas;
- Doray, Bérénice;
- Bardel, Claire;
- Vinciguerra, Christine;
- Sanlaville, Damien
Publication type:
Article
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290
By:
- Averdunk, Luisa;
- Al‐Thihli, Khalid;
- Surowy, Harald;
- Lüdecke, Hermann‐Josef;
- Drechsler, Matthias;
- Yigit, Gökhan;
- Smorag, Lukasz;
- Al Hallak, Bassam;
- Li, Yun;
- Altmüller, Janine;
- Guthoff, Tanja;
- Wallot, Michael;
- Nürnberg, Peter;
- Wollnik, Bernd;
- Jamra, Rami Abou;
- Al‐Maawali, Almundher;
- Wieczorek, Dagmar
Publication type:
Article
Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 392, doi. 10.1111/cge.14282
By:
- Ren, Naixia;
- Dai, Shangkun;
- Ma, Shumin;
- Yang, Fengtang
Publication type:
Article
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 495, doi. 10.1111/cge.14281
By:
- He, Jiaxin;
- Liu, Qiang;
- Wang, Weili;
- Su, Lilan;
- Meng, Lanlan;
- Tan, Chen;
- Zhang, Huan;
- Zhang, Qianjun;
- Lu, Guangxiu;
- Du, Juan;
- Lin, Ge;
- Tu, Chaofeng;
- Tan, Yue‐Qiu
Publication type:
Article
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 434, doi. 10.1111/cge.14279
By:
- Costa‐Riquetto, Aline Dantas;
- de Santana, Lucas Santos;
- Franco, Pedro Campos;
- Jr, Augusto Cezar Santomauro;
- Martio, Artur Eduardo;
- Lisboa, Hugo Roberto Kurtz;
- Kohara, Suely Keiko;
- Teles, Milena G.
Publication type:
Article
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 472, doi. 10.1111/cge.14278
By:
- Zhu, Tian;
- Li, Hui;
- Wei, Xing;
- Li, Wuyi;
- Sun, Zixi;
- Sui, Ruifang
Publication type:
Article
Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 424, doi. 10.1111/cge.14276
By:
- Grant, Peter;
- Cook, Courtney B.;
- Langlois, Sylvie;
- Nuk, Jennifer;
- Mung, SzeWing;
- Zhang, Qian;
- Lynd, Larry D.;
- Austin, Jehannine;
- Elliott, Alison M.
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 381, doi. 10.1111/cge.14154
Publication type:
Article