Detalhe da pesquisa
1.
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?
Hum Mol Genet
; 31(16): 2669-2677, 2022 08 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35244708
2.
Optical genome mapping enables constitutional chromosomal aberration detection.
Am J Hum Genet
; 108(8): 1409-1422, 2021 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34237280
3.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421086
4.
Adenoid cystic carcinoma of the parotid and submandibular glands in children and young adults: A population-based study.
Pediatr Blood Cancer
; 71(5): e30928, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38418934
5.
Regional lymph node evaluation in pediatric conventional melanoma subtype: a single-center 10-year review.
Pediatr Surg Int
; 40(1): 68, 2024 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38441654
6.
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Clin Genet
; 103(4): 401-412, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36576162
7.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36369750
8.
Randomized Trial to Increase Speech Sound Differentiation in Infants Born Preterm.
J Pediatr
; 241: 103-108.e3, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34710395
9.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34866188
10.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29220674
11.
Is BRCA2 involved in early onset colorectal cancer risk?
Clin Genet
; 97(4): 668-669, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31875949
12.
Neonatal Multisensory Processing in Preterm and Term Infants Predicts Sensory Reactivity and Internalizing Tendencies in Early Childhood.
Brain Topogr
; 33(5): 586-599, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32785800
13.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30923172
14.
Isolation and Characterization of Antimicrobial Peptides with Unusual Disulfide Connectivity from the Colonial Ascidian Synoicum turgens.
Mar Drugs
; 18(1)2020 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31940927
15.
Antimicrobial Activity of Small Synthetic Peptides Based on the Marine Peptide Turgencin A: Prediction of Antimicrobial Peptide Sequences in a Natural Peptide and Strategy for Optimization of Potency.
Int J Mol Sci
; 21(15)2020 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32751755
16.
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.
Chromosoma
; 127(2): 247-259, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29238858
17.
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Am J Hum Genet
; 98(2): 363-72, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26833329
18.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27569547
19.
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.
Reprod Biomed Online
; 37(1): 100-106, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29680196
20.
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.
Haemophilia
; 28(5): e132-e135, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35809055