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Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Eur J Hum Genet. 2019 Oct;27(10):1569-1577. doi: 10.1038/s41431-019-0464-8. Epub 2019 Jul 5.
Eur J Hum Genet. 2019.
PMID: 31278392
Free PMC article.
We report a family with three affected pregnancies showing short limbs, cystic hygroma, and perinatal death. Two spontaneously aborted; one survived 1 day after term delivery, and had short limbs, bell-shaped thorax, 11 ribs, absent thumbs, and cleft palate. ...
We report a family with three affected pregnancies showing short limbs, cystic hygroma, and perinatal death. Two spontaneously aborted; one …
Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.
Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM.
Wilhelm CM, et al. Among authors: mcbride kl.
Mol Genet Metab. 2018 Jun;124(2):131-134. doi: 10.1016/j.ymgme.2018.04.010. Epub 2018 Apr 27.
Mol Genet Metab. 2018.
PMID: 29735373
Free PMC article.
CONCLUSIONS: Individuals with Sanfilippo A and B demonstrate a natural history of cardiac involvement with valvular abnormalities most common. In short-term follow up, patients demonstrated only mild progression of abnormalities, none requiring intervention. ...
CONCLUSIONS: Individuals with Sanfilippo A and B demonstrate a natural history of cardiac involvement with valvular abnormalities most commo …
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Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.
Bowden SA, Patel HP, Beebe A, McBride KL.
Bowden SA, et al. Among authors: mcbride kl.
Case Rep Pediatr. 2013;2013:354314. doi: 10.1155/2013/354314. Epub 2013 Dec 10.
Case Rep Pediatr. 2013.
PMID: 24386581
Free PMC article.
The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature. Herein we report a long term followup of a 10-year-old female presenting at 1 year of age with rickets initially misdiagnosed as vitamin D deficiency rickets. ...
The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature. Herein we report a long term f …
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Understanding of informed consent by parents of children enrolled in a genetic biobank.
Klima J, Fitzgerald-Butt SM, Kelleher KJ, Chisolm DJ, Comstock RD, Ferketich AK, McBride KL.
Klima J, et al. Among authors: mcbride kl.
Genet Med. 2014 Feb;16(2):141-8. doi: 10.1038/gim.2013.86. Epub 2013 Jun 27.
Genet Med. 2014.
PMID: 23807615
Free article.
PURPOSE: Prior research suggests that parents undervalue long-term risks associated with their children's participation in research studies. ...
PURPOSE: Prior research suggests that parents undervalue long-term risks associated with their children's participation in research s …
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Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.
Lewin MB, McBride KL, Pignatelli R, Fernbach S, Combes A, Menesses A, Lam W, Bezold LI, Kaplan N, Towbin JA, Belmont JW.
Lewin MB, et al. Among authors: mcbride kl.
Pediatrics. 2004 Sep;114(3):691-6. doi: 10.1542/peds.2003-0782-L.
Pediatrics. 2004.
PMID: 15342840
Free PMC article.
OBJECTIVE: Left ventricular outflow tract obstructive (LVOTO) malformations are a leading cause of infant mortality from birth defects. Genetic mechanisms are likely, and there may be a higher rate of asymptomatic LVOTO anomalies in relatives of affected children. ...The p …
OBJECTIVE: Left ventricular outflow tract obstructive (LVOTO) malformations are a leading cause of infant mortality from birth defect …
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