1.
J Pediatr Adolesc Gynecol
; 22(5): 330-5, 2009 Oct.
Article
in English
| MEDLINE
| ID: mdl-19739288
Subject(s)
Galactosemias/diagnosis , Galactosemias/epidemiology , Primary Ovarian Insufficiency/epidemiology , Puberty, Delayed/epidemiology , Adolescent , Bone Diseases, Metabolic/epidemiology , Comorbidity , Female , Galactosemias/physiopathology , Humans , Physical Examination , Primary Ovarian Insufficiency/diagnosis , Primary Ovarian Insufficiency/physiopathology , Puberty, Delayed/physiopathology
2.
J Med Genet
; 44(4): e75, 2007 Apr.
Article
in English
| MEDLINE
| ID: mdl-17400794
Subject(s)
Chromosomes, Human, X/genetics , DNA-Binding Proteins/genetics , Gene Duplication , Genetic Diseases, X-Linked/genetics , High Mobility Group Proteins/genetics , Hypopituitarism/genetics , Nucleic Acid Hybridization , Oligonucleotide Array Sequence Analysis , Transcription Factors/genetics , Chromosomes, Artificial, Bacterial/genetics , Chromosomes, Human, X/ultrastructure , Genes, X-Linked , Humans , Male , Nucleic Acid Hybridization/methods , Polymerase Chain Reaction , Reproducibility of Results , SOXB1 Transcription Factors , Single-Blind Method
3.
J Pediatr
; 141(6): 752-4, 2002 Dec.
Article
in English
| MEDLINE
| ID: mdl-12461487