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John J Digiovanna

Showing results (51-60 of 78) with videos related to

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Archives of Dermatology|January 21, 2009
Topical tretinoin therapy and all-cause mortalityMartin A Weinstock, Stephen F Bingham, Robert A Lew, et al.
American Journal of Medical Genetics. Part A|September 14, 2022
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosisJohn J DiGiovanna, Grant Randall, Alexandra Edelman, et al.
Prenatal Diagnosis|July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnanciesDeborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
The Journal of Investigative Dermatology|December 1, 2007
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndromeJennie Lugassy, John A McGrath, Peter Itin, et al.
American Journal of Medical Genetics. Part A|March 10, 2020
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung diseaseElizabeth A Burke, Kyle E Reichard, Lynne A Wolfe, et al.
Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.
DNA Repair|October 29, 2008
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptomsSikandar G Khan, Kyu-Seon Oh, Steffen Emmert, et al.
The Journal of Investigative Dermatology|March 22, 2003
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele Richard, Nkecha Brown, Fatima Rouan, et al.
Human Mutation|May 11, 2013
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyXiaohui Tan, Sarah L Anzick, Sikandar G Khan, et al.
Brain : a Journal of Neurology|February 1, 2013
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationMariam B Totonchy, Deborah Tamura, Matthew S Pantell, et al.
Pageof 8

Showing results (51-60 of 78) with videos related to

Sort By:
Pageof 8
Archives of Dermatology|January 21, 2009
Topical tretinoin therapy and all-cause mortalityMartin A Weinstock, Stephen F Bingham, Robert A Lew, et al.
American Journal of Medical Genetics. Part A|September 14, 2022
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosisJohn J DiGiovanna, Grant Randall, Alexandra Edelman, et al.
Prenatal Diagnosis|July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnanciesDeborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
The Journal of Investigative Dermatology|December 1, 2007
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndromeJennie Lugassy, John A McGrath, Peter Itin, et al.
American Journal of Medical Genetics. Part A|March 10, 2020
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung diseaseElizabeth A Burke, Kyle E Reichard, Lynne A Wolfe, et al.
Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.
DNA Repair|October 29, 2008
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptomsSikandar G Khan, Kyu-Seon Oh, Steffen Emmert, et al.
The Journal of Investigative Dermatology|March 22, 2003
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele Richard, Nkecha Brown, Fatima Rouan, et al.
Human Mutation|May 11, 2013
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyXiaohui Tan, Sarah L Anzick, Sikandar G Khan, et al.
Brain : a Journal of Neurology|February 1, 2013
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationMariam B Totonchy, Deborah Tamura, Matthew S Pantell, et al.
Pageof 8