Detalhe da pesquisa
1.
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Hum Reprod
; 27(5): 1460-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22416012
2.
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
Pediatr Res
; 64(6): 689-94, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18670370
3.
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Eur J Endocrinol
; 179(3): 181-190, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29973376
4.
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
J Clin Endocrinol Metab
; 103(7): 2436-2446, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659920
5.
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
J Clin Endocrinol Metab
; 92(8): 3148-54, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17504900
6.
Retinal involvement in two unrelated patients with Myhre syndrome.
Eur J Med Genet
; 55(10): 541-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22683461