Detalhe da pesquisa
1.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
2.
Defining the phenotypical spectrum associated with variants in TUBB2A.
J Med Genet
; 58(1): 33-40, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571897
3.
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.
Am J Med Genet C Semin Med Genet
; 178(2): 198-205, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30182445
4.
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Am J Hum Genet
; 96(5): 765-74, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25913037
5.
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Hum Mutat
; 38(3): 275-278, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008689
6.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
7.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
8.
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat
; 37(7): 703-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071356
9.
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
Hum Mol Genet
; 23(10): 2527-41, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381312
10.
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
BMC Med Genet
; 17: 27, 2016 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27048506
11.
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
Am J Med Genet A
; 170(9): 2404-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27286731
12.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Am J Hum Genet
; 90(2): 369-77, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22305528
13.
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain
; 136(Pt 2): 536-48, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23361065
14.
Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease.
Adv Sci (Weinh)
; : e2401641, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38666485
15.
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
Neurogenetics
; 14(3-4): 205-13, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24052401
16.
Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.
Am J Med Genet A
; 161A(6): 1323-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636902
17.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
J Med Genet
; 49(7): 473-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791840
18.
Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.
Neurosurg Rev
; 36(3): 483-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23584803
19.
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Am J Hum Genet
; 85(1): 97-105, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19559398
20.
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5093, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900662