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Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype

Hormone research in paediatrics, 2020-02, Vol.92 (3), p.143-149

2020

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Scoliosis and Kyphosis Prevalence in Turner Syndrome: A Retrospective Review at a Pediatric Tertiary Care Medical Center

Journal of pediatric orthopaedics, 2023-05, Vol.43 (5), p.299-302

2023

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Is Gadolinium Contrast Necessary for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

Hormone research in paediatrics, 2021, Vol.94 (5-6), p.201-210

2021

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Prevention of Growth Failure in Turner Syndrome: Long-Term Results of Early Growth Hormone Treatment in the “Toddler Turner” Cohort

Hormone research in paediatrics, 2021, Vol.94 (1-2), p.18-35

2021

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Growth Hormone Excess in Children with Optic Pathway Tumors Is a Transient Phenomenon

Hormone research in paediatrics, 2016-01, Vol.86 (1), p.35-38

2016

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Refractory hypoglycemia in a pediatric patient with desmoplastic small round cell tumor

Journal of Pediatric Endocrinology and Metabolism, 2018-08, Vol.31 (8), p.947-950

2018

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A Novel Mutation (Q40P) in PAX8 Associated with Congenital Hypothyroidism and Thyroid Hypoplasia: Evidence for Phenotypic Variability in Mother and Child

The journal of clinical endocrinology and metabolism, 2001-08, Vol.86 (8), p.3962-3967

2001

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Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression

The journal of clinical endocrinology and metabolism, 2001-07, Vol.86 (7), p.3171-3175

2001

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Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1

The Journal of pediatrics, 2000-12, Vol.137 (6), p.878-881

2000

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SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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A single-sample, subcutaneous gonadotropin-releasing hormone test for central precocious puberty

Pediatrics (Evanston), 1996-04, Vol.97 (4), p.517-519

1996

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Adrenal hypoplasia congenita with hypogonadotropic hypogonadism. Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production

The Journal of clinical investigation, 1996-08, Vol.98 (4), p.1055-1062

1996

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Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

The journal of clinical endocrinology and metabolism, 1999-02, Vol.84 (2), p.504-511

1999

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A novel mutation (Q40p) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia : Evidence for phenotypic variability in mother and child

The journal of clinical endocrinology and metabolism, 2001-08, Vol.86 (8), p.3962-3967

2001

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Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay1

The journal of clinical endocrinology and metabolism, 1999-12, Vol.84 (12), p.4497-4500

1999

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Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

The journal of clinical endocrinology and metabolism, 1999-12, Vol.84 (12), p.4497-4500

1999

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Bone mineral density during treatment of central precocious puberty

The Journal of pediatrics, 1995-11, Vol.127 (5), p.819-822

1995

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Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression 1

The journal of clinical endocrinology and metabolism, 2001-07, Vol.86 (7), p.3171-3175

2001

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Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression1

The journal of clinical endocrinology and metabolism, 2001-07, Vol.86 (7), p.3171-3175

2001

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Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita1

The journal of clinical endocrinology and metabolism, 1999-02, Vol.84 (2), p.504-511

1999

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Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita 1

The journal of clinical endocrinology and metabolism, 1999-02, Vol.84 (2), p.504-511

1999

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A Novel X-linked Form of Familial Neurohypophyseal Diabetes Insipidus. • 386

Pediatric research, 1997-04, Vol.41, p.67-67

1997

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A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner

The journal of clinical endocrinology and metabolism, 2022-05, Vol.107 (6), p.e2513-e2522

2022

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Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy

Journal of pediatric & adolescent gynecology, 2020-02, Vol.33 (1), p.10-14

2020

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Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype

Scoliosis and Kyphosis Prevalence in Turner Syndrome: A Retrospective Review at a Pediatric Tertiary Care Medical Center

Is Gadolinium Contrast Necessary for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

Prevention of Growth Failure in Turner Syndrome: Long-Term Results of Early Growth Hormone Treatment in the “Toddler Turner” Cohort

Growth Hormone Excess in Children with Optic Pathway Tumors Is a Transient Phenomenon

Refractory hypoglycemia in a pediatric patient with desmoplastic small round cell tumor

A Novel Mutation (Q40P) in PAX8 Associated with Congenital Hypothyroidism and Thyroid Hypoplasia: Evidence for Phenotypic Variability in Mother and Child

Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

A single-sample, subcutaneous gonadotropin-releasing hormone test for central precocious puberty

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism. Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

A novel mutation (Q40p) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia : Evidence for phenotypic variability in mother and child

Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay1

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

Bone mineral density during treatment of central precocious puberty

Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression 1

Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression1

Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita1

Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita 1

A Novel X-linked Form of Familial Neurohypophyseal Diabetes Insipidus. • 386

A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner

Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy

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