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Year Number of Results
1977 1
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1993 4
1995 3
1996 3
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1998 3
1999 1
2000 3
2001 4
2002 7
2003 8
2004 4
2005 4
2006 5
2007 1
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2009 2
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2012 8
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144 results

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Page 1
Pseudohypoparathyroidism.
Linglart A, Levine MA, Jüppner H. Linglart A, et al. Endocrinol Metab Clin North Am. 2018 Dec;47(4):865-888. doi: 10.1016/j.ecl.2018.07.011. Epub 2018 Oct 12. Endocrinol Metab Clin North Am. 2018. PMID: 30390819 Free PMC article. Review.
Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopic ossification, early-onset obesity, or short stature are common features of PHP. ...
Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopi …
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 …
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, 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. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. Horm Res Paediatr. 2020. PMID: 32756064 Free PMC article. Review.
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal …
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachyda …
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY, Keene DR, Renard M, De Backer J. Sakai LY, et al. Gene. 2016 Oct 10;591(1):279-291. doi: 10.1016/j.gene.2016.07.033. Epub 2016 Jul 18. Gene. 2016. PMID: 27437668 Free PMC article. Review.
Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill-Marchesani syndrome and other acromelic dysplasias. ...
Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic …
Forefoot malformations, deformities and other congenital defects in children.
Rampal V, Giuliano F. Rampal V, et al. Orthop Traumatol Surg Res. 2020 Feb;106(1S):S115-S123. doi: 10.1016/j.otsr.2019.03.021. Epub 2019 Oct 21. Orthop Traumatol Surg Res. 2020. PMID: 31648997 Free article. Review.
There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformations are brachydactyly (transverse defects), longitudinal defects, syndactyly, polydactyly, clinodactyly and macrodactyly. ...
There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformat …
Monogenic hypertension.
Ostrowska A, Skrzypczyk P. Ostrowska A, et al. Pol Merkur Lekarski. 2022 Jun 24;50(297):198-201. Pol Merkur Lekarski. 2022. PMID: 35801605 Review.
Monogenic AH should also be considered in patients with precocious or delayed puberty, growth deficiency, brachydactyly, and severe symptoms or hypertension mediated-organ damage. ...
Monogenic AH should also be considered in patients with precocious or delayed puberty, growth deficiency, brachydactyly, and severe s …
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R. Gavril EC, et al. Genes (Basel). 2023 Feb 11;14(2):465. doi: 10.3390/genes14020465. Genes (Basel). 2023. PMID: 36833393 Free PMC article. Review.
The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/intellectual disability (ID), brachydactyly type E, short stature, obesity, hypotonia in infancy, and abnormal behavior with autism sp …
The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/i …
Acrodysostosis.
Silve C, Clauser E, Linglart A. Silve C, et al. Horm Metab Res. 2012 Sep;44(10):749-58. doi: 10.1055/s-0032-1316330. Epub 2012 Jul 19. Horm Metab Res. 2012. PMID: 22815067 Review.
Acrodysostosis refers to a group of rare skeletal dysplasias that share in common characteristic clinical and radiological features including brachydactyly, facial dysostosis, and nasal hypoplasia. In the past, the term acrodysostosis has been used to describe patients wit …
Acrodysostosis refers to a group of rare skeletal dysplasias that share in common characteristic clinical and radiological features includin …
Symbrachydactyly.
Goodell PB, Bauer AS, Sierra FJ, James MA. Goodell PB, et al. Hand (N Y). 2016 Sep;11(3):262-270. doi: 10.1177/1558944715614857. Epub 2016 Sep 1. Hand (N Y). 2016. PMID: 27698626 Free PMC article. Review.
Management of pseudohypoparathyroidism.
Germain-Lee EL. Germain-Lee EL. Curr Opin Pediatr. 2019 Aug;31(4):537-549. doi: 10.1097/MOP.0000000000000783. Curr Opin Pediatr. 2019. PMID: 31145125 Free PMC article. Review.
Every year, through clinical and laboratory studies, the phenotypes are elucidated in more detail, as are clinical issues such as short stature, brachydactyly, subcutaneous ossifications, cognitive/behavioural impairments, obesity and metabolic disturbances. ...
Every year, through clinical and laboratory studies, the phenotypes are elucidated in more detail, as are clinical issues such as short stat …
144 results