Detalhe da pesquisa
1.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232677
2.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905399
3.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
4.
Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.
Dev Med Child Neurol
; 63(1): 104-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32909287
5.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Genet Med
; 22(4): 797-802, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776469
6.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
7.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Hum Genet
; 137(5): 389-400, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754270
8.
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Hum Mutat
; 37(8): 732-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27158814
9.
Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients.
Eur J Med Genet
; 66(10): 104843, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716645
10.
Mandibular distraction to correct severe non-isolated mandibular hypoplasia: The role of drug-induced sleep endoscopy (DISE) in decision making.
Int J Pediatr Otorhinolaryngol
; 152: 110968, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861552
11.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294868
12.
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Front Pediatr
; 9: 772800, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34900871
13.
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Front Pediatr
; 9: 800915, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35186825
14.
Premature ovarian failure and gene polymorphisms.
Curr Opin Obstet Gynecol
; 21(4): 313-7, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19610175
15.
[Direct-to-consumer genetic tests in the consulting room]. / Direct-to-consumer genetische tests in de spreekkamer.
Ned Tijdschr Geneeskd
; 1632019 11 28.
Artigo
em Holandês
| MEDLINE | ID: mdl-32073784
16.
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Cancers (Basel)
; 11(1)2019 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30658386
17.
Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study.
Birth Defects Res A Clin Mol Teratol
; 82(2): 98-105, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18172903
18.
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association.
Birth Defects Res A Clin Mol Teratol
; 82(2): 92-7, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18186125
19.
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.
Eur J Hum Genet
; 25(10): 1126-1133, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905882
20.
The phenotype of SDHB germline mutation carriers: a nationwide study.
Eur J Endocrinol
; 177(2): 115-125, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28490599