Detalhe da pesquisa
1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
2.
Atlantoaxial instability associated with ALDH18A1 mutation.
Am J Med Genet A
; 191(12): 2898-2902, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37655511
3.
Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.
Am J Med Genet A
; 188(9): 2760-2765, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781780
4.
A retrospective study of adult patients with noncirrhotic hyperammonemia.
J Inherit Metab Dis
; 43(6): 1165-1172, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32713002
5.
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Am J Med Genet A
; 179(7): 1276-1286, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124279
6.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
7.
Is More Effective Newborn Screening for Homocystinuria on the Horizon?
Clin Chem
; 69(5): 433-434, 2023 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36949665
8.
Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm.
Oncologist
; 21(4): 514-20, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26975868
9.
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Am J Med Genet A
; 161A(11): 2762-76, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123776
10.
A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.
JCEM Case Rep
; 1(5): luad109, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908211
11.
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
J Clin Endocrinol Metab
; 108(11): e1306-e1315, 2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37220095
12.
Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis.
N Engl J Med
; 371(9): 847-58, 2014 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25162892
13.
The increased incidence of congenital hypothyroidism: fact or fancy?
Clin Endocrinol (Oxf)
; 75(6): 806-10, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21623857
14.
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Int J Neonatal Screen
; 7(2)2021 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071063
15.
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Mol Genet Metab Rep
; 27: 100735, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732618
16.
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.
J Allergy Clin Immunol Pract
; 9(5): 2060-2067.e2, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607339
17.
Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.
Genet Med
; 12(12 Suppl): S220-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21150368
18.
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
Mol Genet Metab
; 101(1): 33-9, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20580581
19.
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
J Inherit Metab Dis
; 33(Suppl 2): S273-81, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20490925
20.
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
JIMD Rep
; 54(1): 3-8, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32685343