Richard E Lutz
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Explore the profile of Richard E Lutz including associated specialties, affiliations and a list of published articles.
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12
Citations
357
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Recent Articles
1.
Mariotti L, Wild S, Brunoldi G, Piceni A, Ceppi I, Kummer S, et al.
Commun Biol
. 2020 Jun;
3(1):322.
PMID: 32576938
The nuclease/helicase DNA2 plays important roles in DNA replication, repair and processing of stalled replication forks. DNA2 contains an iron-sulphur (FeS) cluster, conserved in eukaryotes and in a related bacterial...
2.
Pringsheim M, Mitter D, Schroder S, Warthemann R, Plumacher K, Kluger G, et al.
Ann Clin Transl Neurol
. 2019 Apr;
6(4):655-668.
PMID: 31019990
Objective: FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by...
3.
Margraf R, Durtschi J, Krock B, Newcomb T, Bonkowsky J, Voelkerding K, et al.
Child Neurol Open
. 2018 Jul;
5:2329048X18789282.
PMID: 30046645
Next-generation sequencing was performed for 2 families with an undiagnosed neurologic disease. Analysis revealed X-linked mutations in the () gene, which is associated with X-linked Pelizaeus-Merzbacher disease and Spastic Paraplegia...
4.
Mitter D, Pringsheim M, Kaulisch M, Plumacher K, Schroder S, Warthemann R, et al.
Genet Med
. 2017 Jun;
20(1):98-108.
PMID: 28661489
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe compiled 30 new and 53 reported patients with a...
5.
Rush E, Caldwell K, Kreikemeier R, Lutz R, Esposito P
J Pediatr Genet
. 2016 Sep;
3(1):29-34.
PMID: 27625864
Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue typically caused by defects in either COL1A1 or COL1A2. A number of other genes causative of this disorder have been...
6.
Wang J, Yu H, Zhang V, Tian X, Feng Y, Wang G, et al.
Genet Med
. 2015 Sep;
18(5):513-21.
PMID: 26402642
Purpose: Next-generation sequencing (NGS) has been widely applied to clinical diagnosis. Target-gene capture followed by deep sequencing provides unbiased enrichment of the target sequences, which not only accurately detects single-nucleotide...
7.
Handler M, Derrick K, Lutz R, Morrell D, Davenport M, Armstrong A
JAMA Dermatol
. 2013 Feb;
149(5):559-64.
PMID: 23426075
Importance: The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. Objectives: To ascertain the prevalence of pilomatricoma...
8.
Rush E, Dehaai K, Kreikemeier R, Lutz R
J Pediatr Endocrinol Metab
. 2012 Aug;
25(5-6):493-7.
PMID: 22876544
The use of bisphosphonates in children to treat low bone mineral density has increased. Safety and efficacy of pamidronate has been previously demonstrated. However, little research has been done on...
9.
Whyte M, Greenberg C, Salman N, Bober M, McAlister W, Wenkert D, et al.
N Engl J Med
. 2012 Mar;
366(10):904-13.
PMID: 22397652
Background: Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die...
10.
Lutz R, Dimmock D, Schmitt E, Zhang Q, Tang L, Reyes C, et al.
J Pediatr Gastroenterol Nutr
. 2009 Mar;
49(1):126-9.
PMID: 19252446
No abstract available.