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1983 1
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2002 1
2006 1
2008 1
2009 1
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Page 1
Congenital alacrima.
Zhao Z, Allen RC. Zhao Z, et al. Orbit. 2022 Apr;41(2):162-169. doi: 10.1080/01676830.2021.1974057. Epub 2021 Sep 5. Orbit. 2022. PMID: 34486478 Review.
The congenital absence of tear production or alacrima is a distinctively unusual clinical sign that harbors a wide variety of etiologies. While alacrima can be only isolated to the lacrimal system, it is more often associated with progressive multisystem involvement …
The congenital absence of tear production or alacrima is a distinctively unusual clinical sign that harbors a wide variety of etiolog …
Diagnosis and genetics of alacrima.
Adams J, Schaaf CP. Adams J, et al. Clin Genet. 2018 Jul;94(1):54-60. doi: 10.1111/cge.13173. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29120068 Review.
Causes of alacrima range from absence/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associated structures. ...To aid in the diagnosis for patients manifesting alacrima, we review the major causes and the various genetic disor …
Causes of alacrima range from absence/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associat …
ACTH resistance syndromes.
Huebner A, Elias LL, Clark AJ. Huebner A, et al. J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:277-93. J Pediatr Endocrinol Metab. 1999. PMID: 10698592 Review.
The triple A syndrome is clinically characterized by the triad of adrenal insufficiency, achalasia and alacrima and a variety of neurological symptoms. After excluding several candidate genes we mapped this syndrome to a 6 cM interval on chromosome 12q13 with no indication …
The triple A syndrome is clinically characterized by the triad of adrenal insufficiency, achalasia and alacrima and a variety of neur …
Isolated glucocorticoid deficiency: Genetic causes and animal models.
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L. Maharaj A, et al. J Steroid Biochem Mol Biol. 2019 May;189:73-80. doi: 10.1016/j.jsbmb.2019.02.012. Epub 2019 Feb 25. J Steroid Biochem Mol Biol. 2019. PMID: 30817990 Review.
Triple A syndrome is an inherited condition involving a tetrad of adrenal insufficiency, achalasia, alacrima and neuropathy. FGD is an autosomal recessive condition characterized by the presence of isolated glucocorticoid deficiency, classically in the setting of preserved …
Triple A syndrome is an inherited condition involving a tetrad of adrenal insufficiency, achalasia, alacrima and neuropathy. FGD is a …
Lacrimal system abnormalities.
Moore BD. Moore BD. Optom Vis Sci. 1994 Mar;71(3):182-3. doi: 10.1097/00006324-199403000-00006. Optom Vis Sci. 1994. PMID: 8196943 Review.
This report outlines several of the more important abnormalities of the lacrimal system in infants and young children. Although rare, alacrima can be a very difficult clinical problem to treat. The most common cause of alacrima is the Riley-Day syndrome. ...
This report outlines several of the more important abnormalities of the lacrimal system in infants and young children. Although rare, ala
Disorders of adrenal development.
Ferraz-de-Souza B, Achermann JC. Ferraz-de-Souza B, et al. Endocr Dev. 2008;13:19-32. doi: 10.1159/000134753. Endocr Dev. 2008. PMID: 18493131 Review.
HESX1, LHX4, SOX3, TPIT, pituitary POMC, PC1); (2) as part of several ACTH resistance syndromes (e.g. MC2R/ACTHR, MRAP, Alacrima, Achalasia, Addison disease), or as (3) a primary defect in the development of the adrenal gland itself (primary adrenal hypoplasia; e.g. ...
HESX1, LHX4, SOX3, TPIT, pituitary POMC, PC1); (2) as part of several ACTH resistance syndromes (e.g. MC2R/ACTHR, MRAP, Alacrima, Ach …
Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature.
Pomahacova R, Paterova P, Nykodymova E, Vaclavikova E, Sykorova P, Personova K, Katra R, Subrt I, Sykora J. Pomahacova R, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022 Mar;166(1):105-111. doi: 10.5507/bp.2021.051. Epub 2021 Aug 24. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022. PMID: 34446941 Free article. Review.
CASE REPORTS: Advanced MTC with palpable mass on the neck and nonendocrine symptoms such as marfanoid habitus, thickened lips, mucosal neuromas led to the diagnosis in case 1 at the age of 13 years and GH deficiency and nonendocrine symptoms in case 2 at the age of 11 years. The …
CASE REPORTS: Advanced MTC with palpable mass on the neck and nonendocrine symptoms such as marfanoid habitus, thickened lips, mucosal neuro …
AAMR syndrome in a 22-month-old and literature review.
Oet MA, Brahma V, McGrath J, Galvin JA. Oet MA, et al. Ophthalmic Genet. 2022 Oct;43(5):658-660. doi: 10.1080/13816810.2022.2068046. Epub 2022 May 23. Ophthalmic Genet. 2022. PMID: 35607266 Review.
PURPOSE: Alacrima is characterized by severely decreased or deficient tear production. ...Treatment for alacrima depends on the severity of ocular symptoms and ranges from the use of lubricant tears and ointment to moisture chambers....
PURPOSE: Alacrima is characterized by severely decreased or deficient tear production. ...Treatment for alacrima depends on th …
Ocular and orbital involvement in leukemia.
Kincaid MC, Green WR. Kincaid MC, et al. Surv Ophthalmol. 1983 Jan-Feb;27(4):211-32. doi: 10.1016/0039-6257(83)90123-6. Surv Ophthalmol. 1983. PMID: 6342189 Review.
Recently, bone marrow transplants have been performed more frequently in an attempt to prolong patient survival; if graft-versus-host disease results, one symptom is dry eyes from alacrima. Superimposed infection due to immunosuppression can occur from the disease itself o …
Recently, bone marrow transplants have been performed more frequently in an attempt to prolong patient survival; if graft-versus-host diseas …
22 results