Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36130591
2.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 2024 May 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38787418
3.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33743206
4.
MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
Am J Med Genet A
; 185(1): 300-303, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33091211
5.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31769566
6.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet
; 53(12): 850-858, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27358180
7.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22970919
8.
An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().
Am J Med Genet A
; 176(9): 2041-2043, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30070761
9.
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.
Prenat Diagn
; 33(11): 1039-43, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23836246
10.
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Am J Med Genet A
; 158A(3): 553-8, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22315194
11.
Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.
Prenat Diagn
; 36(9): 891-3, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27381467
12.
Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas.
Am J Med Genet A
; 152A(3): 657-64, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20186817
13.
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.
Am J Med Genet A
; 152A(7): 1661-9, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20578257
14.
Characterizing the oculoauriculofrontonasal syndrome.
Clin Dysmorphol
; 17(2): 79-85, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18388775
15.
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?
Clin Dysmorphol
; 16(1): 9-13, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17159508
16.
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
Am J Med Genet
; 110(2): 103-8, 2002 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-12116246
17.
Detecting rearrangements in children using subtelomeric FISH and SKY.
Am J Med Genet
; 107(4): 267-74, 2002 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-11840482
18.
Cenani-Lenz syndrome: report of a new case and review of the literature.
Clin Dysmorphol
; 11(3): 215-8, 2002 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-12072805
19.
Increased LIS1 expression affects human and mouse brain development.
Nat Genet
; 41(2): 168-77, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19136950
20.
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Am J Med Genet A
; 137A(3): 283-7, 2005 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16088910