Search details
1.
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
Cell
; 173(6): 1356-1369.e22, 2018 05 31.
Article
in English
| MEDLINE | ID: mdl-29856954
2.
Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study.
Pediatr Surg Int
; 40(1): 136, 2024 May 23.
Article
in English
| MEDLINE | ID: mdl-38780818
3.
Reproductive Safety of Trazodone After Maternal Exposure in Early Pregnancy: A Comparative ENTIS Cohort Study.
J Clin Psychopharmacol
; 43(1): 12-19, 2023.
Article
in English
| MEDLINE | ID: mdl-36584245
4.
Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
Am J Med Genet A
; 191(4): 995-1006, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36584346
5.
Epidemiology of aplasia cutis congenita: A population-based study in Europe.
J Eur Acad Dermatol Venereol
; 37(3): 581-589, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36300660
6.
Pregnancy outcome following first-trimester exposure to fingolimod: A collaborative ENTIS study.
Mult Scler
; 27(3): 475-478, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32538681
7.
Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.
Paediatr Perinat Epidemiol
; 35(5): 530-539, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34132407
8.
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
Pediatr Res
; 87(3): 541-549, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31499513
9.
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
BMC Neurol
; 20(1): 17, 2020 Jan 13.
Article
in English
| MEDLINE | ID: mdl-31931739
10.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Article
in English
| MEDLINE | ID: mdl-27426733
11.
Congenital clubfoot in Europe: A population-based study.
Am J Med Genet A
; 179(4): 595-601, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30740879
12.
Epidemiology of achondroplasia: A population-based study in Europe.
Am J Med Genet A
; 179(9): 1791-1798, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31294928
13.
Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.
Neuroepidemiology
; 53(3-4): 169-179, 2019.
Article
in English
| MEDLINE | ID: mdl-31302658
14.
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Mod Pathol
; 31(7): 1116-1130, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29463882
15.
Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors.
Paediatr Perinat Epidemiol
; 31(6): 549-559, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28841756
16.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Article
in English
| MEDLINE | ID: mdl-21881559
17.
The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study.
Cardiol Young
; 27(4): 677-685, 2017 May.
Article
in English
| MEDLINE | ID: mdl-27572669
18.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A
; 170A(1): 116-29, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26420639
19.
Use of hierarchical models to analyze European trends in congenital anomaly prevalence.
Birth Defects Res A Clin Mol Teratol
; 106(6): 480-8, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-27301561
20.
EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication.
Br J Clin Pharmacol
; 82(4): 1110-22, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27353147