Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1988
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1997 1
2003 1
2008 1
2015 2
2016 1
2018 1
2020 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Nat Rev Endocrinol. 2018. PMID: 29959430 Free PMC article. Review.
The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecu …
The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH …
Brachydactyly.
Temtamy SA, Aglan MS. Temtamy SA, et al. Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. Orphanet J Rare Dis. 2008. PMID: 18554391 Free PMC article. Review.
The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. ...For the majority of isolated brachydactylies and some syndro …
The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an i …
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP. Thomas-Teinturier C, et al. Am J Med Genet A. 2016 Mar;170(3):734-42. doi: 10.1002/ajmg.a.37490. Epub 2015 Dec 6. Am J Med Genet A. 2016. PMID: 26640227 Review.
Autosomal-dominant brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. ...Here, we report three patients affected with brachydactyly type E, caused by PTHLH …
Autosomal-dominant brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of …
Pseudohypoparathyroidism type Ib in 2015.
Mantovani G, Elli FM. Mantovani G, et al. Ann Endocrinol (Paris). 2015 May;76(2):101-4. doi: 10.1016/j.ando.2015.03.028. Epub 2015 Apr 21. Ann Endocrinol (Paris). 2015. PMID: 25910998 Review.
Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, short statu …
Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (POH) represent rare, …
Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF. Levanovich PE, et al. Curr Hypertens Rev. 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. Curr Hypertens Rev. 2020. PMID: 30963979 Free PMC article. Review.
Geller syndrome is due to a point mutation in the hormone responsive element of the promotor for the mineralocorticoid receptor, rendering the receptor susceptible to activation by progesterone, leading to hypertension during pregnancy. Pseudohypoaldosteronism type II (PHA …
Geller syndrome is due to a point mutation in the hormone responsive element of the promotor for the mineralocorticoid receptor, rendering t …
Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.
Yoda A, Oishi I, Minami Y. Yoda A, et al. J Recept Signal Transduct Res. 2003 Feb;23(1):1-15. doi: 10.1081/rrs-120018757. J Recept Signal Transduct Res. 2003. PMID: 12680586 Review.
In Aplysia and D. melanogaster, Rors are expressed exclusively in developing nervous systems. On the other hand, rather widespread expression of Rors was observed in C. elegans and mammals. ...In humans, mutations within Ror2 have been found in two genetic skeletal disorde …
In Aplysia and D. melanogaster, Rors are expressed exclusively in developing nervous systems. On the other hand, rather widespread ex …
Heterozygous manifestations in the heritable disorders of the skeleton.
Beighton P. Beighton P. Pediatr Radiol. 1997 May;27(5):397-401. doi: 10.1007/s002470050155. Pediatr Radiol. 1997. PMID: 9133350 Review.
During the past two decades, family studies have been undertaken in conditions of this type in order to detect any structural manifestations in obligate and potential heterozygotes. ...What proportion of persons with isolated brachydactyly are heterozygotes for Greb …
During the past two decades, family studies have been undertaken in conditions of this type in order to detect any structural manifes …
Type C brachydactyly transmitted through four generations.
Sanz J, Gilgenkrantz S. Sanz J, et al. Ann Genet. 1988;31(1):43-6. Ann Genet. 1988. PMID: 3281570 Review.
We report a type C brachydactyly transmitted through four generations, with incomplete penetrance and feet abnormalities in the proposita....
We report a type C brachydactyly transmitted through four generations, with incomplete penetrance and feet abnormalities in th …