Sznajer Y - Search Results

1

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y. Biard JM, et al. Among authors: sznajer y. Eur J Obstet Gynecol Reprod Biol. 2019 Sep;240:232-241. doi: 10.1016/j.ejogrb.2019.06.035. Epub 2019 Jul 16. Eur J Obstet Gynecol Reprod Biol. 2019. PMID: 31336229 Review.

2

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: sznajer y. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.

3

An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease.

De Montpellier S, Sznajer Y, Amiel J, Francois G, Nassogne MC, Debauche C, Scheers I. De Montpellier S, et al. Among authors: sznajer y. Eur J Pediatr. 2014 Dec;173(12):1607-9. doi: 10.1007/s00431-013-2171-8. Epub 2013 Oct 18. Eur J Pediatr. 2014. PMID: 24135798

4

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

Beleza-Meireles A, Steenhaut P, Hocq C, Clapuyt P, Bernard P, Debauche C, Sznajer Y. Beleza-Meireles A, et al. Among authors: sznajer y. Eur J Med Genet. 2017 Feb;60(2):100-104. doi: 10.1016/j.ejmg.2016.11.002. Epub 2016 Nov 9. Eur J Med Genet. 2017. PMID: 27836748

5

Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm.

Laterre M, Bernard P, Vikkula M, Sznajer Y. Laterre M, et al. Among authors: sznajer y. Prenat Diagn. 2018 Apr;38(5):337-343. doi: 10.1002/pd.5243. Epub 2018 Mar 23. Prenat Diagn. 2018. PMID: 29500832 No abstract available.

6

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

Biard JM, Payrat S, Clapuyt P, Barrea C, Benoit V, Baldin P, Bernard P, Van Grambezen B, Sznajer Y. Biard JM, et al. Among authors: sznajer y. Eur J Med Genet. 2021 Apr;64(4):104189. doi: 10.1016/j.ejmg.2021.104189. Epub 2021 Mar 2. Eur J Med Genet. 2021. PMID: 33662639 Review.

7

Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a "de novo" ZC4H2 gene partial deletion.

Deneufbourg C, Duquenne A, Biard JM, Sznajer Y. Deneufbourg C, et al. Among authors: sznajer y. Clin Case Rep. 2021 Aug 30;9(9):e04718. doi: 10.1002/ccr3.4718. eCollection 2021 Sep. Clin Case Rep. 2021. PMID: 34484757 Free PMC article.

8

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E. Denayer E, et al. Among authors: sznajer y. Genes Chromosomes Cancer. 2010 Mar;49(3):242-52. doi: 10.1002/gcc.20735. Genes Chromosomes Cancer. 2010. PMID: 19953625

9

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Jia Y, Louw JJ, Breckpot J, Callewaert B, Barrea C, Sznajer Y, Gewillig M, Souche E, Dehaspe L, Vermeesch JR, Lambrechts D, Devriendt K, Corveleyn A. Jia Y, et al. Among authors: sznajer y. Am J Med Genet A. 2015 Aug;167A(8):1822-9. doi: 10.1002/ajmg.a.37108. Epub 2015 Apr 30. Am J Med Genet A. 2015. PMID: 25931334

10

Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.

Muys J, Jacquemyn Y, Blaumeiser B, Bourlard L, Brison N, Bulk S, Chiarappa P, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Duquenne A, Fieuw A, Fransen E, Gatot JS, Jamar M, Janssens S, Kerstjens J, Keymolen K, Lederer D, Menten B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vermeesch J, Janssens K. Muys J, et al. Among authors: sznajer y. Prenat Diagn. 2020 Sep;40(10):1272-1283. doi: 10.1002/pd.5751. Epub 2020 Jun 24. Prenat Diagn. 2020. PMID: 32436253

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