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1968 1
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20 results

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Page 1
Sjogren-Larsson syndrome associated hypermelanosis.
Xu YC, Hou JQ, Zhu WJ, Li P. Xu YC, et al. J Cosmet Dermatol. 2020 Apr;19(4):789-798. doi: 10.1111/jocd.13209. Epub 2019 Nov 7. J Cosmet Dermatol. 2020. PMID: 31697031 Review.
BACKGROUND/OBJECTIVES: Sjogren - Larsson syndrome (SLS) is a rare autosomal recessive disease of the mutation ALDH3A2 that identifies a part of fatty acids for fatty aldehyde dehydrogenase: NAD-oxidoreductase enzyme complex. ...METHODS: In Nov 2018, we performed a literatu …
BACKGROUND/OBJECTIVES: Sjogren - Larsson syndrome (SLS) is a rare autosomal recessive disease of the mutation ALDH3A2 that identifies …
Ocular manifestations in the X-linked intellectual disability syndromes.
Couser NL, Masood MM, Aylsworth AS, Stevenson RE. Couser NL, et al. Ophthalmic Genet. 2017 Sep-Oct;38(5):401-412. doi: 10.1080/13816810.2016.1247459. Epub 2017 Jan 23. Ophthalmic Genet. 2017. PMID: 28112979 Review.
Some XLID syndromes (e.g. Aicardi, cerebrooculogenital, Graham anophthalmia, Lenz, Lowe, MIDAS) are widely known for their characteristic ocular manifestations. ...Four XLID syndromes with major ocular manifestations (incontinentia pigmenti, Goltz, MIDAS, and Aicard …
Some XLID syndromes (e.g. Aicardi, cerebrooculogenital, Graham anophthalmia, Lenz, Lowe, MIDAS) are widely known for their characteri …
Genetics of microphthalmos.
Warburg M. Warburg M. Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580. Int Ophthalmol. 1981. PMID: 6795139 Review.
This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal domina …
This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New s …
Microphthalmia and associated abnormalities in inbred black mice.
Smith RS, Roderick TH, Sundberg JP. Smith RS, et al. Lab Anim Sci. 1994 Dec;44(6):551-60. Lab Anim Sci. 1994. PMID: 7898027 Review.
The eye abnormalities may be unilateral or bilateral and, for unexplained reasons, have a strong predilection for the right eye. Microphthalmia may be subtle and clinical anophthalmia may actually represent severe microphthalmia. ...Development of the fetal alcohol …
The eye abnormalities may be unilateral or bilateral and, for unexplained reasons, have a strong predilection for the right eye. Micropht …
Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.
Balikov DA, Jacobson A, Prasov L. Balikov DA, et al. Genes (Basel). 2021 Sep 11;12(9):1403. doi: 10.3390/genes12091403. Genes (Basel). 2021. PMID: 34573386 Free PMC article. Review.
Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. ...Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical …
Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. ...Similarly, glaucoma may be the f …
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
Indrieri A, Franco B. Indrieri A, et al. Genes (Basel). 2021 Feb 11;12(2):263. doi: 10.3390/genes12020263. Genes (Basel). 2021. PMID: 33670341 Free PMC article. Review.
Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare, unconventional mitochondrial disorder which presents as a developmental disease; its main clinical features include microphthalmia with different degrees of sev …
Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare, unconventional mitochondria …
Peters' anomaly and associated congenital malformations.
Traboulsi EI, Maumenee IH. Traboulsi EI, et al. Arch Ophthalmol. 1992 Dec;110(12):1739-42. doi: 10.1001/archopht.1992.01080240079035. Arch Ophthalmol. 1992. PMID: 1463415 Review.
There was developmental delay in 15 patients, congenital heart disease in eight patients, external ear abnormalities in five patients, structural defects of the central nervous system in four patients, genitourinary malformations in four patients, cleft lip/palate in three patien …
There was developmental delay in 15 patients, congenital heart disease in eight patients, external ear abnormalities in five patients, struc …
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
Hershkovitz E, Parvari R, Diaz GA, Gorodischer R. Hershkovitz E, et al. J Pediatr Endocrinol Metab. 2004 Dec;17(12):1583-90. doi: 10.1515/jpem.2004.17.12.1583. J Pediatr Endocrinol Metab. 2004. PMID: 15645691 Review.
Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin. The syndrome consists of permanent congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and profound glob …
Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin. …
Molecular basis of congenital hypopigmentary disorders in humans: a review.
Boissy RE, Nordlund JJ. Boissy RE, et al. Pigment Cell Res. 1997 Feb-Apr;10(1-2):12-24. doi: 10.1111/j.1600-0749.1997.tb00461.x. Pigment Cell Res. 1997. PMID: 9170158 Review.
A subset of neural crest derived cells emigrate from the dorsal surface of the neural tube, become committed to the melanoblast lineage, and are targeted along the dorsal lateral pathway. The specific transcription factors PAX3 and MITF (microphthalmia transcription factor …
A subset of neural crest derived cells emigrate from the dorsal surface of the neural tube, become committed to the melanoblast lineage, and …
20 results