Detalles de la búsqueda
1.
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
BMC Med
; 22(1): 158, 2024 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38616269
2.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
PLoS Genet
; 14(12): e1007866, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30586382
3.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
FASEB J
; 33(10): 11284-11302, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31314595
4.
Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.
Am J Med Genet A
; 182(7): 1673-1680, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32352226
5.
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Blood Cells Mol Dis
; 64: 38-44, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28376382
6.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Hum Mutat
; 37(2): 175-83, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26486927
7.
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.
Am J Med Genet A
; 167A(8): 1902-7, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25846317
8.
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
Am J Med Genet A
; 164A(4): 1015-20, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24458587
9.
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
PLoS Genet
; 7(7): e1002114, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21750680
10.
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.
Hum Mutat
; 34(6): 894-904, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23463580
11.
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
Am J Med Genet A
; 161A(7): 1750-4, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23696273
12.
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Am J Med Genet A
; 161A(11): 2894-901, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24124115
13.
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Am J Med Genet A
; 161A(5): 1028-35, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23554019
14.
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Am J Med Genet A
; 161A(2): 273-84, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23322667
15.
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Genes (Basel)
; 14(8)2023 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37628577
16.
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Am J Med Genet A
; 158A(9): 2245-9, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22807161
17.
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
Hum Mol Genet
; 18(5): 888-97, 2009 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-19066229
18.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Front Genet
; 11: 464, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32457805
19.
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Genes (Basel)
; 10(10)2019 09 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31569402
20.
Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.
Am J Med Genet A
; 158A(5): 1216-8, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22489058