Novel splice site mutation in GATA3 in a patient with HDR syndrome

por Matsuo, Kumihiro, Kobayashi, Arisa, Tanahashi, Yusuke, Maruyama, Satoko, Niitsu, Yoshihiro, Katsuta, Hidenori, Furuya, Akiko, Suzuki, Shigeru, Kawamura, Mitsunobu, Azuma, Hiroshi
Publicado 2017

A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel FBP1 mutation (p.Phe90Val)

por Nagahara, Keiko, Ariyasu, Daisuke, Igaki, Junko, Hasegawa, Yuki, Hasegawa, Yukihiro
Publicado 2017

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR

por Saito-Hakoda, Akiko, Nishii, Aki, Uchida, Takashi, Kikuchi, Atsuo, Kanno, Junko, Fujiwara, Ikuma, Kure, Shigeo
Publicado 2018

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

por Dhekne, Herschel S., Pylypenko, Olena, Overeem, Arend W., Ferreira, Rosaria J., van der Velde, K. Joeri, Rings, Edmond H.H.M., Posovszky, Carsten, Swertz, Morris A., Houdusse, Anne, van IJzendoorn, Sven C.D.
Publicado 2018

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

por Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, van de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, van Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, van der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Van Laer, Lut, Loeys, Bart
Publicado 2018

A pediatric case of insulinoma and a novel MEN1 mutation: the efficacy of the combination therapy of diazoxide and cornstarch

por Nakano, Satsuki, Sato, Takeshi, Hosokawa, Mayumi, Takagi, Chisato, Yoshida, Fumiko, Ishii, Tomohiro, Sato, Seiji, Hasegawa, Tomonobu
Publicado 2018

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

por Fukuma, Mami, Takagi, Masaki, Shimazu, Tomoyuki, Imamura, Hoseki, Yagi, Hiroko, Nishimura, Gen, Hasegawa, Tomonobu
Publicado 2018

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene

por Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al‐Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J.
Publicado 2018

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

por Pathak, Sagar J., Mueller, James L., Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E., Yourshaw, Michael, Hernandez, Erick, Oesterreicher, Sandy, Naik, Sandhia, Sanderson, Ian R., Axelsson, Irene, Agardh, Daniel, Boland, C. Richard, Martin, Martin G., Putnam, Christopher D., Sivagnanam, Mamata
Publicado 2018

A Japanese case of familial hypercholesterolemia with a novel mutation in the LDLR gene

por Nagahara, Keiko, Hachiya, Rumi, Tada, Hayato, Okada, Hirofumi, Yamagishi, Masakazu, Dobashi, Kazushige, Mizuno, Katsumi, Hasegawa, Yukihiro
Publicado 2019

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency

por Abdelkreem, Elsayed, Harijan, Rajesh K., Yamaguchi, Seiji, Wierenga, Rikkert K., Fukao, Toshiyuki
Publicado 2019

Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control

por Hasegawa, Kosei, Ihoriya, Hiromi, Futagawa, Natsuko, Higuchi, Yousuke, Tsuchiya, Hiroki, Shibata, Takashi, Hayashi, Yumiko, Kobayashi, Katsuhiro, Tsukahara, Hirokazu
Publicado 2019

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

por Gardner, Emily, Bailey, Mitch, Schulz, Angela, Aristorena, Mikel, Miller, Nicole, Mole, Sara E.
Publicado 2019

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

por Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Publicado 2019

Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation

por Kagami, Ryosuke, Sato, Takeshi, Ishii, Tomohiro, Araki, Eriko, Yamashita, Yukio, Shibata, Hironori, Ishihara, Jun, Hasegawa, Tomonobu
Publicado 2020

Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

por De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.
Publicado 2020

A mutation update for the FLNC gene in myopathies and cardiomyopathies

por Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., de Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., van Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, van Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, van den Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Publicado 2020

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2

por Goda, Takeshi, Komatsu, Hiroshi, Nozu, Kandai, Nakajima, Hisakazu
Publicado 2020

Nephrogenic diabetes insipidus caused by a novel missense variant (p.S127Y) in the AVPR2 gene

por Maeyama, Takatoshi, Etani, Yuri, Nishigaki, Satsuki, Kawai, Masanobu
Publicado 2021

Multi-generational SIR modeling: Determination of parameters, epidemiological forecasting and age-dependent vaccination policies

por Campos, Eduardo Lima, Cysne, Rubens Penha, Madureira, Alexandre L., Mendes, Gélcio L.Q.
Publicado 2021