Detalhe da pesquisa
1.
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).
Am J Med Genet A
; 191(5): 1301-1324, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806455
2.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
3.
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Am J Med Genet A
; 176(7): 1559-1568, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797497
4.
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.
Am J Med Genet A
; 173(6): 1694-1697, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422407
5.
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.
Cardiology
; 130(1): 48-51, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25502304
6.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nat Genet
; 37(12): 1345-50, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16311597
7.
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Orphanet J Rare Dis
; 19(1): 114, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38475835
8.
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenat Diagn
; 33(1): 75-80, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161355
9.
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.
Orphanet J Rare Dis
; 18(1): 57, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927364
10.
Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.
Prenat Diagn
; 32(2): 173-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22418962
11.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Eur J Hum Genet
; 30(1): 101-110, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697416
12.
Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
J Bone Miner Res
; 36(6): 1077-1087, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596325
13.
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.
Birth Defects Res
; 112(2): 175-185, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31840946
14.
Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch.
Med Genet
; 36(2): 139-140, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38854647
15.
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
Mol Syndromol
; 9(6): 287-294, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30800044
16.
Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil?
Obstet Gynecol
; 111(2 Pt 2): 483-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18238994
17.
Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios.
Fetal Diagn Ther
; 23(3): 228-32, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18417983
18.
Double-outlet left ventricle in association with heterotaxy and left isomerism of the atrial appendages.
J Ultrasound Med
; 31(6): 965-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644696
19.
Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases.
Geburtshilfe Frauenheilkd
; 77(5): 495-507, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28579621
20.
Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.
N Engl J Med
; 359(3): 318-9, 2008 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-18635443