Detalhe da pesquisa
1.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30287593
2.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29618507
3.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
J Med Genet
; 53(3): 152-62, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26543203
4.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Am J Hum Genet
; 92(2): 265-70, 2013 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23312594
5.
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Am J Hum Genet
; 92(4): 621-6, 2013 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-23541344
6.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A
; 170A(1): 116-29, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26420639
7.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-23103230
8.
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
Am J Med Genet A
; 167A(1): 185-9, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25402011
9.
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
Am J Med Genet A
; 161A(10): 2582-7, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23929658
10.
Clinical comparison of overlapping deletions of 19p13.3.
Am J Med Genet A
; 161A(5): 1110-6, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23610052
11.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Am J Med Genet A
; 161A(4): 671-8, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23401279
12.
Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.
Am J Hematol
; 88(4): 306-11, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23460398
13.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
J Med Genet
; 48(4): 226-34, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21398687
14.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20976770
15.
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
Am J Med Genet A
; 155A(4): 725-31, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21594994
16.
Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
Eur J Hum Genet
; 27(4): 525-534, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30622331
17.
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
Hum Mutat
; 28(12): 1183-8, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17676597
18.
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
Eur J Med Genet
; 59(4): 249-56, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26732629
19.
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.
J Neuromuscul Dis
; 3(4): 487-495, 2016 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27911332
20.
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Eur J Hum Genet
; 24(7): 992-1000, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26626311