Literature DB >> 26605941

Hypoplastic Metatarsals--Beyond Cosmesis.

Amita Sharma1, Alfred J Phillips, Harald Jüppner.   

Abstract

Entities:  

Mesh：

Year:  2015        PMID： 26605941      PMCID： PMC4713011          DOI： 10.1056/NEJMc1508520

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  4 in total

1.  The stimulatory G protein alpha-subunit gene: mutations and imprinting lead to complex phenotypes.

Authors:  L S Weinstein
Journal:  J Clin Endocrinol Metab       Date:  2001-10       Impact factor: 5.958

2.  Metatarsal lengthening by callus distraction for brachymetatarsia.

Authors:  Akifusa Wada; Henri Bensahel; Kazuyuki Takamura; Toshio Fujii; Haruhisa Yanagida; Tomoyuki Nakamura
Journal:  J Pediatr Orthop B       Date:  2004-05       Impact factor: 1.041

Review 3.  Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.

Authors:  Giovanna Mantovani
Journal:  J Clin Endocrinol Metab       Date:  2011-08-03       Impact factor: 5.958

4.  Treatment of brachymetatarsia by the callus distraction method.

Authors:  I M Fox
Journal:  J Foot Ankle Surg       Date:  1998 Sep-Oct       Impact factor: 1.286
  4 in total
  8 in total

1.  A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.

Authors:  Monica Reyes; Anara Karaca; Murat Bastepe; Nese Ersoz Gulcelik; Harald Jüppner
Journal:  Bone       Date:  2017-07-12       Impact factor: 4.398

2.  Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.

Authors:  Sabrina Poradosu; Bert Bravenboer; Rieko Takatani; Harald Jüppner
Journal:  BMJ Case Rep       Date:  2016-05-11

Review 3.  Pseudohypoparathyroidism: one gene, several syndromes.

Authors:  O Tafaj; H Jüppner
Journal:  J Endocrinol Invest       Date:  2016-12-19       Impact factor: 4.256

4.  Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.

Authors:  Annette Grüters-Kieslich; Monica Reyes; Amita Sharma; Cem Demirci; Terry J DeClue; Erwin Lankes; Dov Tiosano; Dirk Schnabel; Harald Jüppner
Journal:  J Clin Endocrinol Metab       Date:  2017-08-01       Impact factor: 5.958

5.  A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.

Authors:  Monica Reyes; Bert Bravenboer; Harald Jüppner
Journal:  J Bone Miner Res       Date:  2019-01-02       Impact factor: 6.741

6.  Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause.

Authors:  Monica Reyes; Caroline Silve; Harald Jüppner
Journal:  Exp Clin Endocrinol Diabetes       Date:  2019-12-11       Impact factor: 2.949

Review 7.  Molecular Definition of Pseudohypoparathyroidism Variants.

Authors:  Harald Jüppner
Journal:  J Clin Endocrinol Metab       Date:  2021-05-13       Impact factor: 5.958

Review 8.  Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Authors:  Giovanna Mantovani; Murat Bastepe; David Monk; Luisa de Sanctis; Susanne Thiele; Alessia Usardi; S Faisal Ahmed; Roberto Bufo; Timothée Choplin; Gianpaolo De Filippo; Guillemette Devernois; Thomas Eggermann; Francesca M Elli; Kathleen Freson; Aurora García Ramirez; Emily L Germain-Lee; Lionel Groussin; Neveen Hamdy; Patrick Hanna; Olaf Hiort; Harald Jüppner; Peter Kamenický; Nina Knight; Marie-Laure Kottler; Elvire Le Norcy; Beatriz Lecumberri; Michael A Levine; Outi Mäkitie; Regina Martin; Gabriel Ángel Martos-Moreno; Masanori Minagawa; Philip Murray; Arrate Pereda; Robert Pignolo; Lars Rejnmark; Rebecca Rodado; Anya Rothenbuhler; Vrinda Saraff; Ashley H Shoemaker; Eileen M Shore; Caroline Silve; Serap Turan; Philip Woods; M Carola Zillikens; Guiomar Perez de Nanclares; Agnès Linglart
Journal:  Nat Rev Endocrinol       Date:  2018-08       Impact factor: 43.330
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.