Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 4

Results: 15

Expanding the clinical spectrum associated with PACS2 mutations.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 525, doi. 10.1111/cge.13516

By:

Dentici, Maria L.;
Digilio, Maria C.;
Barresi, Sabina;
Niceta, Marcello;
Ciolfi, Andrea;
Dallapiccola, Bruno;
Tartaglia, Marco;
Trivisano, Marina;
Specchio, Nicola;
Bartuli, Andrea

Publication type:

Article

ADAMTSL1 and mandibular prognathism.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 507, doi. 10.1111/cge.13519

By:

Pruksametanan, Apitchaya;
Intachai, Worrachet;
Kantaputra, Piranit N.;
Phondee, Nattapol;
Hutsadaloi, Athiwat;
Kawasaki, Katsushig;
Ohazama, Atsushi;
Ngamphiw, Chumpol;
Tongsima, Sissades;
Ketudat Cairns, James R.;
Tripuwabhrut, Polbhat

Publication type:

Article

Further quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytes.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 542, doi. 10.1111/cge.13496

By:

Veitia, Reiner A.

Publication type:

Article

Assessment of pre‐implantation genetic testing for embryo aneuploidies: A SWOT analysis.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 479, doi. 10.1111/cge.13510

By:

Alteri, Alessandra;
Corti, Laura;
Rabellotti, Elisa;
Papaleo, Enrico;
Sanchez, Ana M.;
Viganò, Paola

Publication type:

Article

Newly identified set of obesity‐related genotypes and abdominal fat influence the risk of insulin resistance in a Korean population.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 488, doi. 10.1111/cge.13509

By:

Kim, Minjoo;
Yoo, Hye Jin;
Lee, Jong Ho;
Jeong, Sarang;
An, Hyoeun;
Jee, Sun Ha

Publication type:

Article

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 496, doi. 10.1111/cge.13507

By:

Radley, Jessica A.;
Cox, Helen;
Vogt, Julie;
Morton, Jenny;
Cooper, Nicola;
Elmslie, Frances F.;
Balasubramanian, Meena;
O'Sullivan, Rory B.G.;
Turton, Sarah E.;
Jones, Elizabeth;
Clayton‐Smith, Jill;
Smithson, Sarah;
Sansbury, Francis H.;
Lachlan, Katherine;
Rankin, Julia;
Willoughby, Josh

Publication type:

Article

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506

By:

Zollino, Marcella;
Marangi, Giuseppe;
Giurgea, Irina;
Whalen, Sandra;
Macchiaiolo, Marina;
Smigiel, Robert;
Thibert, Ronald L.;
Benoist, Ingrid;
Clayton‐Smith, Jill;
De Winter, Channa F.;
Deckers, Stijn;
Huisman, Sylvia;
Kruisinga, Frea;
Menke, Leonie;
Hennekam, Raoul C.;
Kempink, Dagmar;
Lamacchia, Vittoria;
Renieri, Alessandra;
Nordgren, Ann;
Routledge, Sue

Publication type:

Article

Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 520, doi. 10.1111/cge.13505

By:

Zhang, Zhihua;
Mu, Jian;
Zhou, Zhou;
Chen, Biaobang;
Wang, Wenjing;
Zhao, Lin;
Dong, Jie;
Sang, Qing;
Zhao, Junli;
Wu, Ling;
Yan, Zheng;
Kuang, Yanping;
Li, Bin;
Sun, Xiaoxi;
Wang, Lei

Publication type:

Article

Constitutional mosaicism in RASA1‐related capillary malformation‐arteriovenous malformation.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 516, doi. 10.1111/cge.13499

By:

Gordo, Gema;
Rodriguez‐Laguna, Lara;
Agra, Noelia;
Martinez‐Glez, Victor;
Mendez, Pilar;
Feito, Marta;
Lapunzina, Pablo;
Lopez‐Gutierrez, Juan C.

Publication type:

Article

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 540, doi. 10.1111/cge.13495

By:

Abdullah;
Ahmad, Wasim;
Ullah, Asmat;
Umair, Muhammad;
Jan, Abid;
Majeed, Ayesha I.

Publication type:

Article

Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 537, doi. 10.1111/cge.13492

By:

Mahmoud, Iman G.;
Elkhateeb, Nour M.;
Elnaggar, Walaa;
Sobhi, Ahmed;
Girgis, Marian Y.;
Kamel, Mona;
Shaheen, Yara;
Samaha, Mona;
Ramadan, Areef;
Hassan, Sawsan A.;
Khalifa, Iman A.;
Mossad, Fawzya;
Al‐Menabawy, Nihal M.;
Selim, Laila A.;
Elmonem, Mohamed A.;
Zaki, Maha S.;
El‐Hawary, Bahaa;
Zielke, Susanne;
Rolfs, Arndt;
Gleeson, Joseph G.

Publication type:

Article

MicroRNA single‐nucleotide polymorphisms and diabetes mellitus: A comprehensive review.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 451, doi. 10.1111/cge.13491

By:

Zhang, Yanfen;
Bai, Ruocen;
Ma, Chunyan;
Chen, Xin;
Yang, Jun;
Sun, Dandan;
Liu, Chong

Publication type:

Article

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome.

Published in:

2019

By:

Midro, Alina T.;
Panasiuk, Barbara;
Skowroński, Rafał;
Tommerup, Niels;
Mehrjouy, Manna M.;
Borys, Jan;
Kosztyła‐Hojna, Bożena;
Zalewska, Renata;
Konstantynowicz, Jerzy;
Łebkowska, Urszula;
Cooper, Lance;
Stankiewicz, Paweł;
Liu, Qian;
Scherer, Steven E.

Publication type:

Case Study

Rapid reversal of clinical down‐classification of a BRCA1 splicing variant avoiding psychological harm.

Published in:

Clinical Genetics, 2019, v. 95, n. 4, p. 532, doi. 10.1111/cge.13488

By:

Burghel, George J.;
Banks, Catherine;
Wallace, Andrew J.;
Smith, Miriam J.;
Woodward, Emma R.;
Evans, D. Gareth;
Morgan, Robert D.;
Turnbull, Clare

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 95, n. 4, p. 449, doi. 10.1111/cge.13396
Publication type:: Article