Detalhe da pesquisa
1.
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Clin Genet
; 91(2): 333-338, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103078
2.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Clin Genet
; 91(1): 92-99, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102954
3.
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Clin Genet
; 89(6): 700-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26757139
4.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Clin Genet
; 90(6): 509-517, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060890
5.
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Am J Med Genet A
; 167(7): 1587-92, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899569
6.
What can we learn from old microdeletion syndromes using array-CGH screening?
Clin Genet
; 82(1): 41-7, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21722100
7.
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Am J Med Genet A
; 158A(7): 1735-41, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678974
8.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
J Med Genet
; 47(6): 377-84, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522426
9.
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Clin Genet
; 77(3): 258-65, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19817772
10.
Delineation of 15q13.3 microdeletions.
Clin Genet
; 78(2): 149-61, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236110
11.
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.
Am J Med Genet A
; 149A(3): 475-81, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19213026
12.
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
J Neurol Neurosurg Psychiatry
; 79(6): 725-8, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18245139
13.
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
Am J Med Genet A
; 146A(16): 2109-15, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18629884
14.
NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.
J Inherit Metab Dis
; 31(1): 81-7, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18214711
15.
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
Eur J Med Genet
; 50(6): 455-64, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17720646
16.
GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
Hum Mutat
; 32(11): 1332-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796731
17.
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.
Am J Med Genet A
; 155A(8): 2031-4, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21739595
18.
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.
Prenat Diagn
; 31(9): 912-4, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21706508
19.
Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.
Am J Med Genet A
; 152A(5): 1314-7, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425843
20.
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
JIMD Rep
; 20: 45-55, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25626710