Detalhe da pesquisa
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815585
2.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
3.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872713
4.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet
; 104(6): 1060-1072, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104773
5.
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med
; 23(3): 581-585, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087887
6.
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.
J Pediatr Gastroenterol Nutr
; 71(6): 726-730, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32740531
7.
Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism.
Pediatr Rev
; 45(4): 234-238, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38556508
8.
Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California.
J Genet Couns
; 27(4): 996-1004, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397479
9.
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Genes Chromosomes Cancer
; 55(2): 131-42, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542077
10.
Response to Biesecker et al.
Genet Med
; 23(4): 793-794, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420347
11.
BRAT1-related disease--identification of a patient without early lethality.
Am J Med Genet A
; 170(3): 699-702, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494257
12.
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Genet Med
; 16(6): 448-59, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24232412
13.
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.
Am J Med Genet A
; 164A(5): 1118-26, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458548
14.
MAB21L4 Deficiency Drives Squamous Cell Carcinoma via Activation of RET.
Cancer Res
; 82(17): 3143-3157, 2022 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705526
15.
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
J Med Genet
; 47(5): 332-41, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19914906
16.
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.
BMC Med Genomics
; 14(1): 186, 2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34266427
17.
The Adult Neck Mass: Predictors of Malignancy.
Otolaryngol Head Neck Surg
; 165(5): 673-681, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33687292
18.
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
Genet Med
; 12(1): 19-24, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20027113
19.
Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adipose.
Mol Endocrinol
; 23(1): 113-23, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19008465
20.
Comparison of a two-lead, computerized, resting ECG signal analysis device, the MultiFunction-CardioGram or MCG (a.k.a. 3DMP), to quantitative coronary angiography for the detection of relevant coronary artery stenosis (>70%) - a meta-analysis of all published trials performed and analyzed in the US.
Int J Med Sci
; 6(4): 143-55, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19381351