Publications:

A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.

Case Reports In Endocrinology

Carlsson, Elin Rebecka ER; Toft Nielsen, Mai-Britt MB; Høgh, Anne Mette AM; Veggerby Grønlund, Rikke R; Fenger, Mogens M; Ambye, Louise L

Publication Date: 2019

Variant appearance in text: ADH: 242T>C

PubMed Link: 30895164

Variant Present in the following documents:

• 9468252.f1.pdf

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Central diabetes insipidus.

Nagoya Journal Of Medical Science

Arima, Hiroshi H; Azuma, Yoshinori Y; Morishita, Yoshiaki Y; Hagiwara, Daisuke D

Publication Date: 2016-12

Variant appearance in text: AVP: L81P

PubMed Link: 28008190

Variant Present in the following documents:

• Main text
• 2186-3326-78-0349.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: AVP: L81P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Utility of genetic testing in suspected familial cranial diabetes insipidus.

Endocrinology, Diabetes & Metabolism Case Reports

Srinivasan, Ramesh R; Ball, Stephen S; Ward-Platt, Martin M; Bourn, David D; McAnulty, Ciaron C; Cheetham, Tim T

Publication Date: 2013

Variant appearance in text: AVP: 242T>C; Leu81Pro

PubMed Link: 24616780

Variant Present in the following documents:

• Main text
• edmcr-2013-130068.pdf

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