Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 1

Results: 16

The genetics of incontinence: A scoping review.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 22, doi. 10.1111/cge.14331

By:

Breinbjerg, Anders;
Jørgensen, Cecilie Siggaard;
Borg, Britt;
Rittig, Søren;
Kamperis, Konstantinos;
Christensen, Jane Hvarregaard

Publication type:

Article

Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 90, doi. 10.1111/cge.14342

By:

Gao, Shanshan;
Wu, Dongping;
Liu, Shuai;
Shen, Yanlong;
Zhao, Zhehao;
Wang, Yanhua;
Kong, Xiangdong

Publication type:

Article

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 100, doi. 10.1111/cge.14351

By:

Díaz‐González, Francisca;
Parrón‐Pajares, Manuel;
Lucas‐Castro, Elsa;
Modamio‐Høybjør, Silvia;
Sentchordi‐Montané, Lucia;
Seidel, Verónica;
Prieto, Pablo;
Tarraso‐Urios, Guillermo;
Codina‐Sola, Marta;
Cueto‐González, Anna M.;
Ballesta‐Martínez, Mary J.;
Santos‐Simarro, Fernando;
Sousa, Sergio B.;
Heath, Karen E.

Publication type:

Article

Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 81, doi. 10.1111/cge.14337

By:

Jelsig, Anne Marie;
van Overeem Hansen, Thomas;
Gede, Lene Bjerring;
Qvist, Niels;
Christensen, Lise‐Lotte;
Lautrup, Charlotte Kvist;
Frederiksen, Jane Hübertz;
Sunde, Lone;
Ousager, Lilian Bomme;
Ljungmann, Ken;
Bertelsen, Birgitte;
Karstensen, John Gásdal

Publication type:

Article

Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 3, doi. 10.1111/cge.14332

By:

Nolan, Joshua J.;
Ormondroyd, Elizabeth

Publication type:

Article

Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 127, doi. 10.1111/cge.14320

By:

Alavanda, Ceren;
Arslan Ateş, Esra;
Yavaş Abalı, Zehra;
Geçkinli, Bilgen Bilge;
Turan, Serap;
Arman, Ahmet

Publication type:

Article

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 73, doi. 10.1111/cge.14335

By:

Mo, Alisa;
Paz‐Ebstein, Emuna;
Yanovsky‐Dagan, Shira;
Lai, Abbe;
Mor‐Shaked, Hagar;
Gilboa, Tal;
Yang, Edward;
Shao, Diane D.;
Walsh, Christopher A.;
Harel, Tamar

Publication type:

Article

Morphological and genetic causes of fetal cardiomyopathies.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 63, doi. 10.1111/cge.14333

By:

Kohaut, Eva;
Ader, Flavie;
Rooryck, Caroline;
Pelluard, Fanny;
Bonnière, Maryse;
André, Gwenaelle;
Sauvestre, Fanny;
Roth, Philippe;
Khraiche, Diala;
Bessières, Bettina;
Attié‐Bitach, Tania;
Richard, Pascale

Publication type:

Article

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 114, doi. 10.1111/cge.14328

By:

Aubert‐Mucca, Marion;
Janel, Caroline;
Porquet‐Bordes, Valérie;
Patat, Olivier;
Touraine, Renaud;
Edouard, Thomas;
Michot, Caroline;
Tessier, Aude;
Cormier‐Daire, Valérie;
Attie‐Bitach, Tania;
Baujat, Geneviève

Publication type:

Article

A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 142, doi. 10.1111/cge.14317

By:

Mustafa, Sumayya;
Abbas, Safdar;
Mahmood, Arif;
Khan, Ali Zaman;
Zeb, Shah;
Khan, Amjad;
Umair, Muhammad

Publication type:

Article

Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 107, doi. 10.1111/cge.14327

By:

Schwartz, Mathias;
Moncoutier, Virginie;
Peytral, Adrien;
Le Gall, Jessica;
Suybeng, Voreak;
Pagès, Mélanie;
Masliah‐Planchon, Julien;
Trabelsi‐Grati, Olfa;
Melaabi, Samia;
Callens, Céline;
Bièche, Ivan;
Delhomelle, Hélène;
De Pauw, Antoine;
Saule, Claire;
Mouret‐Fourme, Emmanuelle;
Gauthier‐Villars, Marion;
Buecher, Bruno;
Colas, Chrystelle;
Stoppa‐Lyonnet, Dominique;
Golmard, Lisa

Publication type:

Article

The prevalence and phenotypic range associated with biallelic PKDCC variants.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 121, doi. 10.1111/cge.14324

By:

Pagnamenta, Alistair T.;
Belles, Rebecca S.;
Salbert, Bonnie Anne;
Wentzensen, Ingrid M.;
Guillen Sacoto, Maria J.;
Santos, Francis Jeshira Reynoso;
Caffo, Alesky;
Ferla, Matteo;
Banos‐Pinero, Benito;
Pawliczak, Karolina;
Makvand, Mina;
Najmabadi, Hossein;
Maroofian, Reza;
Lester, Tracy;
Yanez‐Felix, Ana Lucia;
Villarroel‐Cortes, Camilo E.;
Xia, Fan;
Al Fayez, Khowla;
Al Hashem, Amal;
Shears, Deborah

Publication type:

Article

Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 139, doi. 10.1111/cge.14314

By:

Jacquart, Amanda;
Schilter, Kala F.;
Udani, Rupa;
Evans, Douglas;
Carroll, Ty B.;
Reddi, Honey V.

Publication type:

Article

Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308

By:

Leoni, Chiara;
Viscogliosi, Germana;
Onesimo, Roberta;
Verdolotti, Tommaso;
Biagini, Tommaso;
Mazza, Tommaso;
De Luca, Alessandro;
Perri, Lucrezia;
Trevisan, Valentina;
Flex, Elisabetta;
Tartaglia, Marco;
Zampino, Giuseppe

Publication type:

Article

Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 133, doi. 10.1111/cge.14307

By:

Kantaputra, Piranit;
Buaban, Kittikhoon;
Thongsee, Napaphat;
Kaewgahya, Massupa;
Quarto, Natalina;
Carlson, Bruce M.;
Ngamphiw, Chumpol;
Tongsima, Sissades

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 104, n. 1, p. 1, doi. 10.1111/cge.14157
Publication type:: Article