Works matching IS 01973851 AND DT 2024 AND VI 44 AND IP 12

Results: 19

Prenatal Phenotypic Analysis of Branchio‐Oto‐Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1509, doi. 10.1002/pd.6673

By:

Tian, Yuan;
Lv, Yuexia;
Wang, Handuo;
Che, Jia;
Cui, Fangying;
Guo, Jing;
Tian, Weifang;
Peng, Jia;
Yang, Bo;
Li, Haiyu;
Zhou, Baixue;
Zhu, Xiaolu;
Cui, Xueyin;
Liu, Ling

Publication type:

Article

Fetal Speckle Tracking Echocardiography Measured Global Longitudinal Strain and Strain Rate in Congenital Heart Disease: A Systematic Review and Meta‐Analysis.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1479, doi. 10.1002/pd.6672

By:

van den Wildenberg, Sarah;
van Beynum, Ingrid M.;
Havermans, Malou E. C.;
Boersma, Eric;
DeVore, Greggory R.;
Simpson, John M.;
Steegers, Eric A. P.;
Go, Attie T. J. I.;
Cornette, Jérôme M. J.

Publication type:

Article

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1444, doi. 10.1002/pd.6676

By:

Diderich, Karin E. M.;
Bruggenwirth, Hennie T.;
Joosten, Marieke;
Thurik, Florentine;
Mijalkovic, Jona;
Polak, Marike;
Kromosoeto, Joan;
Somers‐Bolman, Galhana M.;
van den Born, Myrthe;
Drost, Mark;
Galjaard, Robert Jan H.;
Galjaard, Sander;
Hoefsloot, Lies H.;
Knapen, Maarten F. C. M.;
van Minkelen, Rick;
van der Schoot, Vyne;
van Slegtenhorst, Marjon A.;
Sleutels, Frank;
Stuurman, Kyra E.;
Weerts, Marjolein J. A.

Publication type:

Article

Prenatal Sonographic Features of Rubinstein–Taybi Syndrome—A Small Case Series of a Rare Syndrome.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1502, doi. 10.1002/pd.6668

By:

Zloto, K.;
Weissbach, T.;
Messing, B.;
Birnbaum, R.;
Gindes, L.;
Levy, M.;
Lerman‐Sagie, T.;
Hadi, E.;
Eliyahu, A.;
Feinstein‐Goren, N.;
Kassif, E.

Publication type:

Article

Predictive Indicators and Outcomes of Pregnancies Affected by Stage I Twin–Twin Transfusion Syndrome Treated With Fetoscopic Laser Photocoagulation.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1548, doi. 10.1002/pd.6691

By:

Wagata, Maiko;
Wada, Seiji;
Sago, Haruhiko;
Shimabukuro, Makiko;
Nakata, Masahiko;
Iwagaki, Shigenori;
Takahashi, Yuichiro;
Konno, Hiroko;
Murakoshi, Takeshi;
Ishii, Keisuke

Publication type:

Article

Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra‐Cerebral Malformations.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1526, doi. 10.1002/pd.6684

By:

Kratochwila, C.;
Pomar, L.;
Lebon, S.;
Gengler, C.;
Pavlidou, D. C.;
Good, J.‐M.;
Kumps, C.;
Sichitiu, J.

Publication type:

Article

Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin–Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1522, doi. 10.1002/pd.6683

By:

Veazey, Rachel A.;
Fisher, Allan J.;
Talati, Asha N.;
Hardisty, Emily;
Gilmore, Kelly L.;
Vora, Neeta L.

Publication type:

Article

Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1518, doi. 10.1002/pd.6682

By:

Miremberg, Hadas;
Birnbaum, Roee;
Trigubov, Dorin;
Botvinik, Adi;
Yaron, Yuval;
Mory, Adi;
Malinger, Gustavo;
Haratz, Karina Krajden

Publication type:

Article

Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1530, doi. 10.1002/pd.6681

By:

Athiel, Yoann;
Jouannic, Jean‐Marie;
Lépine, Matthieu;
Maillet, Corentin;
de Saint Denis, Timothée;
Larghero, Jérôme;
Guilbaud, Lucie

Publication type:

Article

Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1462, doi. 10.1002/pd.6680

By:

Eggenhuizen, Geerke M.;
Go, Attie T. J. I.;
Hoffer, Mariëtte J. V.;
Goedegebuur‐Zwalua, Eveline;
Srebniak, Malgorzata I.;
Van Opstal, Diane

Publication type:

Article

Maternal Complications After Laser Surgery for Twin‐to‐Twin Transfusion Syndrome, a Cohort Study.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1556, doi. 10.1002/pd.6663

By:

Gijtenbeek, M.;
Prein, F. M. M.;
Verweij, E. J. T.;
Middeldorp, J. M.;
Slaghekke, F.;
Haak, M. C.

Publication type:

Article

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1423, doi. 10.1002/pd.6659

By:

Brabbing‐Goldstein, Dana;
Bazak, Lily;
Ruhrman‐Shahar, Noa;
Lidzbarsky, Gabriel Arie;
Orenstein, Naama;
Lifshiz‐Kalis, Marina;
Asia‐Batzir, Nurit;
Goldberg, Yael;
Basel‐Salmon, Lina

Publication type:

Article

Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi‐Center Cohort Study.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1451, doi. 10.1002/pd.6674

By:

Li, Keying;
Wang, Huilin;
Chau, Matthew Hoi Kin;
Dong, Zirui;
Cao, Ye;
Zheng, Yu;
Leung, Tak Yeung;
Choy, Kwong Wai;
Zhu, Yuanfang

Publication type:

Article

Issue Information.

Published in:: Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1421, doi. 10.1002/pd.6380
Publication type:: Article

Response to Wynn and Hokovec Regarding "The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use".

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1500, doi. 10.1002/pd.6656

By:

Vora, Neeta L.;
Langlois, Sylvie;
Chitty, Lyn S.

Publication type:

Article

Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1435, doi. 10.1002/pd.6653

By:

Rodó, Carlota;
Maiz, Nerea;
Vázquez, Élida;
Gómez‐Andrés, David;
Valenzuela, Irene;
Abulí, Anna;
Carreras, Elena

Publication type:

Article

Fetal Therapy for Congenital Pulmonary Malformations: A Prospective Population‐Based National Cohort Study.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1536, doi. 10.1002/pd.6646

By:

Weber, Mathilde;
Monier, Isabelle;
Rahshenas, Makan;
Salomon, Laurent J.;
Sananes, Nicolas;
Castaigne, Vanina;
Houfflin‐Debarge, Véronique;
Jouannic, Jean‐Marie;
Massardier, Jérôme;
Tsatsaris, Vassilis;
Khoshnood, Babak;
Lelong, Nathalie;
Delacourt, Christophe;
Benachi, Alexandra

Publication type:

Article

Correspondence on "Current Controversy in Prenatal Diagnosis: The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use".

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1498, doi. 10.1002/pd.6655

By:

Wynn, Julia;
Hoskovec, Jennifer

Publication type:

Article

Uptake rate of carrier screening among consanguineous couples.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 12, p. 1470, doi. 10.1002/pd.6556

By:

Ricca, Julianne;
Brandt, Justin S.;
Jacob, Natalie;
Ashkinadze, Elena

Publication type:

Article