Results 131 to 140 of about 6,243 (172)

Description of the novel variant c.784delG;p. (Ala262Profs*68) at <i>BSND</i> gene and its association with Bartter Syndrome Type Iva. [PDF]

Biomed Rep
Bonomo JH, De Oliveira LC, Scher MDCSD, Da Cunha AF, Trindade A.   +4 more
europepmc   +1 more source

Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II. [PDF]

JCEM Case Rep, 2023
Kiuchi Z, Nozu K, Yan K, Jüppner H.
europepmc   +1 more source

An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant. [PDF]

Clin Case Rep
Hassan K, Afara I, Harajli A, Allam J, Saliba K, Harb F.   +5 more
europepmc   +1 more source

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up. [PDF]

Front Genet
Lu H, Liu S, Sun J, Mou L.
europepmc   +1 more source

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis. [PDF]

Mol Genet Genomic Med, 2022
Zhao Q, Xiang Q, Tan Y, Xiao X, Xie H, Wang H, Yang M, Liu S.   +7 more
europepmc   +1 more source

Adult-onset Bartter syndrome type IV B with ACTH secreting pituitary microadenoma. [PDF]

J Bras Nefrol
Mathew GG.
europepmc   +1 more source

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening. [PDF]

J Paediatr Child Health, 2022
Forbes TA, Wallace J, Kumble S, Delatycki MB, Stark Z.   +4 more
europepmc   +1 more source

An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia. [PDF]

Hormones (Athens)
Chondrogianni ME, Diamantopoulos P, Papadopoulou A, Kaperda A, Kyrou I, Randeva HS, Vlachopapadopoulou E, Yavropoulou M, Angelousi A, Kassi E.   +9 more
europepmc   +1 more source

Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder. [PDF]

Cureus, 2021
Saleem N, Nasir H, Hassan D, Manzoor M.
europepmc   +1 more source

Bartter Syndrome With Recurrent Hypokalemic Periodic Paralysis: A Case Report. [PDF]

Cureus
Das A, R R, Panda S.
europepmc   +1 more source