Published in Am J Med Genet on December 01, 1992
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. Am J Hum Genet (1999) 1.41
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet (1998) 1.13
Dynamic expression of Tbx2 subfamily genes in development of the mouse reproductive system. Dev Dyn (2011) 0.81
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet (1995) 2.15
Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review. Am J Med Genet (1999) 1.67
Allergy to extensively hydrolyzed cow milk proteins in infants: identification and treatment with an amino acid-based formula. J Pediatr (1997) 1.50
Hypothalamo-hypophysial dysfunction after traumatic brain injury in children and adolescents: a preliminary retrospective and prospective study. J Pediatr Endocrinol Metab (2006) 1.47
Endocrine function and water metabolism in children and adolescents with surgically treated intra/parasellar tumors. J Pediatr Endocrinol Metab (2004) 1.40
Pamidronate treatment of bone fibrous dysplasia in nine children with McCune-Albright syndrome. Acta Paediatr (2000) 1.37
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. J Clin Pathol (2006) 1.15
Melatonin protects against 6-OHDA-induced neurotoxicity in rats: a role for mitochondrial complex I activity. FASEB J (2001) 1.01
A novel GNAS1 mutation, R201G, in McCune-albright syndrome. J Bone Miner Res (1999) 0.99
Bone turnover in children and adolescents with McCune-Albright syndrome treated with pamidronate for bone fibrous dysplasia. Calcif Tissue Int (2002) 0.98
Altered bone mineral density in patients with complete androgen insensitivity syndrome. Horm Res (1998) 0.95
Corticotropin-releasing factor (CRF) and related peptides confer neuroprotection via type 1 CRF receptors. Neuropharmacology (2003) 0.94
Patients transferred to academic medical centers and other hospitals: characteristics, resource use, and outcomes. Acad Med (1997) 0.92
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings. Clin Genet (1990) 0.90
Arterial tortuosity syndrome. Am J Med Genet (2000) 0.90
Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Pediatr Endocrinol (1993) 0.90
Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome). Am J Med Genet (2001) 0.87
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. Am J Med Genet (1998) 0.85
The time-course of milk antigen-induced TNF-alpha secretion differs according to the clinical symptoms in children with cow's milk allergy. J Allergy Clin Immunol (1999) 0.85
McCune-Albright syndrome: a longitudinal clinical study of 32 patients. J Pediatr Endocrinol Metab (2000) 0.85
Protective effect of melatonin against hippocampal DNA damage induced by intraperitoneal administration of kainate to rats. Neuroscience (1996) 0.85
Long-term outcome of male-limited gonadotropin-independent precocious puberty. Horm Res (1997) 0.84
Patterson-Lowry rhizomelic dysplasia: report of two new patients. Am J Med Genet A (2004) 0.84
Bone metabolism in thalassemia. Ann N Y Acad Sci (1998) 0.83
Monozygotic twinning and Wiedemann-Beckwith syndrome. Am J Med Genet (1993) 0.83
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. Eur J Pediatr (1991) 0.83
Sperm count of young men surgically treated for cryptorchidism in the first and second year of life: fertility is better in children treated at a younger age. Eur J Pediatr Surg (2009) 0.83
Fecal tumor necrosis factor alpha, eosinophil cationic protein and IgE levels in infants with cow's milk allergy and gastrointestinal manifestations. Clin Chem Lab Med (1999) 0.82
Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata? Am J Med Genet (2000) 0.82
Testicular function in men treated in childhood for undescended testes. J Pediatr Surg (2001) 0.82
Neuroprotection by melatonin from kainate-induced excitotoxicity in rats. FASEB J (1996) 0.82
Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease. Am J Med Genet (1993) 0.81
Multiple food allergy: a possible diagnosis in breastfed infants. Acta Paediatr (1997) 0.81
Thyroid abnormalities in children and adolescents with McCune-Albright syndrome. Horm Res Paediatr (2012) 0.80
Radioulnar synostosis and XYY syndrome. Clin Dysmorphol (2000) 0.80
Neuroprotective effects of melatonin. Adv Exp Med Biol (1996) 0.80
Combined therapy with LHRH and HCG in cryptorchid infants. Eur J Pediatr (1993) 0.80
Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature. Genet Couns (2002) 0.80
The Feulgen reaction after glutaraldehyde fixation. Stain Technol (1975) 0.79
Laparoscopic unilateral adrenalectomy in children for isolated primary pigmented nodular adrenocortical disease (PPNAD): case report and literature review. Eur J Pediatr Surg (2010) 0.79
Pamidronate treatment in bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome. J Pediatr Endocrinol Metab (2002) 0.79
Stereotactic radiotherapy for isolated nodal recurrence of prostate cancer. World J Urol (2014) 0.79
In vitro and in vivo protection against kainate-induced excitotoxicity by melatonin. J Pineal Res (1996) 0.79
Comparison of two different protocols of neonatal screening for cystic fibrosis. Clin Genet (2002) 0.79
Early hormonal and surgical treatment of cryptorchidism. J Urol (1997) 0.79
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. J Pediatr Endocrinol Metab (2003) 0.79
Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet (1993) 0.79
Impact of endocrine hyperfunction and phosphate wasting on bone in McCune-Albright syndrome. J Pediatr Endocrinol Metab (2002) 0.79
Arginine potentiates the GHRH- but not the pyridostigmine-induced GH secretion in normal short children. Further evidence for a somatostatin suppressing effect of arginine. Clin Endocrinol (Oxf) (1990) 0.79
Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature. Eur J Pediatr (1995) 0.78
Role of radiotherapy boost in women with ductal carcinoma in situ: a single-center experience in a series of 389 patients. Eur J Surg Oncol (2013) 0.78
Growth impairment, IGF I hyposecretion and thyroid dysfunction in children with perinatal HIV-1 infection. Acta Paediatr (1994) 0.78
[The medical treatment of cryptorchism in early childhood]. Pediatr Med Chir (1991) 0.78
An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma. Mol Pathol (2002) 0.77
Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders. Osteoporos Int (2011) 0.77
Cryptorchidism: medical and surgical treatment in the 1st year of life. Pediatr Surg Int (1998) 0.77
[Cryptorchidism]. Pediatr Med Chir (1995) 0.77
Prenatal diagnosis of Nonne-Milroy lymphedema. Ultrasound Obstet Gynecol (2001) 0.77
[Functional dynamics of gonadotropins in girls with idiopathic precocious puberty, with premature pubarche and thelarche]. Minerva Pediatr (1977) 0.77
ACTH and cortisol secretions in children with perinatal HIV-1 infection. Pediatr AIDS HIV Infect (1996) 0.77
Expedited human immunodeficiency virus testing of mothers and newborns with unknown HIV status at time of labor and delivery. J Perinat Med (2000) 0.77
Isolation and structural and genetic analysis of the mouse enkephalin gene and its d(AC/TG)n repeats. DNA Seq (1998) 0.77
Long-term parenteral nutrition in children who are potentially candidates for small bowel transplantation. Transplant Proc (1994) 0.77
Increased liver enzymes and hormonal therapies in girls and adolescents with Turner syndrome. J Endocrinol Invest (2005) 0.77
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. Am J Med Genet (2001) 0.76
Kainic acid induces selective mitochondrial oxidative phosphorylation enzyme dysfunction in cerebellar granule neurons: protective effects of melatonin and GSH ethyl ester. FASEB J (2001) 0.76
Increased TIA1-expressing intraepithelial lymphocytes in cow's milk protein intolerance. J Pediatr Gastroenterol Nutr (1997) 0.76
New dysmorphic features in Rubinstein-Taybi syndrome. J Med Genet (1992) 0.75
In vivo protection against kainate-induced apoptosis by the pineal hormone melatonin: effect of exogenous melatonin and circadian rhythm. Restor Neurol Neurosci (1996) 0.75
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. Clin Genet (2003) 0.75
Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance. Am J Med Genet A (2003) 0.75
Melatonin prevents the delayed death of hippocampal neurons induced by enhanced excitatory neurotransmission and the nitridergic pathway. FASEB J (1998) 0.75
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries? Acta Paediatr (2003) 0.75
Neoadjuvant oxaliplatin and 5-fluorouracil with concurrent radiotherapy in patients with locally advanced rectal cancer: a single-institution experience. Radiol Med (2013) 0.75
Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. J Neurol Neurosurg Psychiatry (1989) 0.75
Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity? Clin Dysmorphol (1994) 0.75
Growth velocity monitoring of the efficacy of different therapeutic protocols in a group of thalassaemic children. Eur J Pediatr (1995) 0.75
Pre-B acute lymphoblastic leukemia in a patient with partial lipodystrophy and acanthosis nigricans. Panminerva Med (1995) 0.75