Search | VHL CLAP/WR-PAHO/WHO

1.

Updated consensus guidelines on the management of Phelan-McDermid syndrome.

Srivastava, Siddharth; Sahin, Mustafa; Buxbaum, Joseph D; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey; Bernstein, Jonathan A; Asante-Otoo, Afua; Bennett, William E; Betancur, Catalina; Brickhouse, Tegwyn H; Passos Bueno, Maria Rita; Chopra, Maya; Christensen, Celanie K; Cully, Jennifer L; Dies, Kira; Friedman, Kate; Gummere, Brittany; Holder, J Lloyd; Jimenez-Gomez, Andres; Kerins, Carolyn A; Khan, Omar; Kohlenberg, Teresa; Lacro, Ronald V; Levi, Lori A; Levy, Tess; Linnehan, Diane; Eva, Loth; Moshiree, Baharak; Neumeyer, Ann; Paul, Scott M; Phelan, Katy; Persico, Antonio; Rapaport, Robert; Rogers, Curtis; Saland, Jeffrey; Sethuram, Swathi; Shapiro, Janine; Tarr, Phillip I; White, Kerry M; Wickstrom, Jordan; Williams, Kent M; Winrow, Dana; Wishart, Brian; Kolevzon, Alexander.

Am J Med Genet A ; 191(8): 2015-2044, 2023 08.

Article in English | MEDLINE | ID: mdl-37392087

2.

Associations between prenatal phthalate exposure and sex-typed play behavior in preschool age boys and girls.

Evans, Sarah Felice; Raymond, Samantha; Sethuram, Swathi; Barrett, Emily S; Bush, Nicole R; Nguyen, Ruby; Sathyanarayana, Sheela; Swan, Shanna H.

Environ Res ; 192: 110264, 2021 01.

Article in English | MEDLINE | ID: mdl-32997969

3.

An update on the diagnosis and treatment of adrenoleukodystrophy.

Gujral, Jasmine; Sethuram, Swathi.

Curr Opin Endocrinol Diabetes Obes ; 30(1): 44-51, 2023 02 01.

Article in English | MEDLINE | ID: mdl-36373727

4.

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Ramirez Alcantara, Jonanlis; Grant, Natalie R; Sethuram, Swathi; Nagy, Amanda; Becker, Catherine; Sahai, Inderneel; Stanley, Takara; Halper, Alyssa; Eichler, Florian S.

J Clin Endocrinol Metab ; 108(11): e1306-e1315, 2023 10 18.

Article in English | MEDLINE | ID: mdl-37220095

5.

Early prenatal sex steroids and sex-typed play behavior at 4 years of age.

Sethuram, Swathi; Raymond, Samantha; Wang, Christina; Barrett, Emily S; Bush, Nicole R; Nguyen, Ruby; Sathyanarayana, Sheela; Swan, Shanna H; Evans, Sarah Felice.

Psychoneuroendocrinology ; 156: 106288, 2023 10.

Article in English | MEDLINE | ID: mdl-37480735

6.

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia.

Sethuram, Swathi; Sperling, Mark A; Gujral, Jasmine; Romero, Christopher J.

Orphanet J Rare Dis ; 16(1): 190, 2021 04 28.

Article in English | MEDLINE | ID: mdl-33910593

7.

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Lozano, Reymundo; Gbekie, Catherine; Siper, Paige M; Srivastava, Shubhika; Saland, Jeffrey M; Sethuram, Swathi; Tang, Lara; Drapeau, Elodie; Frank, Yitzchak; Buxbaum, Joseph D; Kolevzon, Alexander.

J Neurodev Disord ; 13(1): 18, 2021 04 23.

Article in English | MEDLINE | ID: mdl-33892622

8.

Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy.

Gujral, Jasmine; Costin, Gertrude; Khurana, Divya; Yau, Mabel; Wallach, Elizabeth; Romero, Christopher J; Wilkes, Meredith; Sethuram, Swathi; Rapaport, Robert.

Int J Pediatr Endocrinol ; 2020: 16, 2020.

Article in English | MEDLINE | ID: mdl-32944019

9.

Otitis Media in Fully Vaccinated Preschool Children in the Pneumococcal Conjugate Vaccine Era.

Talathi, Saurabh; Gupta, Neha; Sethuram, Swathi; Khanna, Shefali; Sitnitskaya, Yekaterina.

Glob Pediatr Health ; 4: 2333794X17749668, 2017.

Article in English | MEDLINE | ID: mdl-29308427

10.

Update: Pediatric Diabetes.

Sethuram, Swathi; Rapaport, Robert.

J Diabetes ; 12(10): 769-771, 2020 Oct.

Article in English | MEDLINE | ID: mdl-32166876

11.

Update: Pediatric Diabetes.

Gujral, Jasmine; Sethuram, Swathi; Rapaport, Robert.

J Diabetes ; 12(3): 262-264, 2020 03.

Article in English | MEDLINE | ID: mdl-31837125

12.

Update: Pediatric diabetes.

Sethuram, Swathi; Rapaport, Robert.

J Diabetes ; 11(9): 771-772, 2019 09.

Article in English | MEDLINE | ID: mdl-31134758

VHL CLAP/WR-PAHO/WHO

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Updated consensus guidelines on the management of Phelan-McDermid syndrome.

Associations between prenatal phthalate exposure and sex-typed play behavior in preschool age boys and girls.

An update on the diagnosis and treatment of adrenoleukodystrophy.

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Early prenatal sex steroids and sex-typed play behavior at 4 years of age.

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia.

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy.

Otitis Media in Fully Vaccinated Preschool Children in the Pneumococcal Conjugate Vaccine Era.

Update: Pediatric Diabetes.

Update: Pediatric Diabetes.

Update: Pediatric diabetes.