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Quoted phrase not found in phrase index: "Linear skin defects with multiple congenital anomalies 3"
Page 1
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.
Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, Stetten G. Cain CC, et al. Prenat Diagn. 2007 Apr;27(4):373-9. doi: 10.1002/pd.1674. Prenat Diagn. 2007. PMID: 17286317
OBJECTIVE: To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia and linear skin defects syndrome. METHODS: We used karyotype analysis, FISH and array CGH to investigate an X;Y transloca …
OBJECTIVE: To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia an …
Continuous glucose monitoring and advanced glycation endproducts for prediction of clinical outcomes and development of cystic fibrosis-related diabetes in adults with CF.
Scully KJ, Brenner L, Martin K, Ruazol M, Sawicki GS, Uluer A, Neuringer I, Yonker LM, Sicilian L, Putman MS. Scully KJ, et al. Front Endocrinol (Lausanne). 2024 Feb 6;15:1293709. doi: 10.3389/fendo.2024.1293709. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38379863 Free PMC article.
CGM and HbA1c at baseline did not predict decline in FEV1 (p>0.05 for all). In the 46 participants without a diagnosis of CFRD at baseline, two participants were diagnosed with CFRD over the following two years, but CGM measures at baseline did not predict progre …
CGM and HbA1c at baseline did not predict decline in FEV1 (p>0.05 for all). In the 46 participants without a diagnosis of CFRD at …
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS. Oliwa A, et al. Am J Med Genet A. 2023 Feb;191(2):546-553. doi: 10.1002/ajmg.a.63019. Epub 2022 Nov 1. Am J Med Genet A. 2023. PMID: 36317804
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. ...His phenotype broadly fits the PIEZO2 phenotypic spectrum …
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. Th …
A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.
Leuthard F, Lehner G, Jagannathan V, Leeb T, Welle M. Leuthard F, et al. Anim Genet. 2019 Dec;50(6):768-771. doi: 10.1111/age.12862. Epub 2019 Oct 1. Anim Genet. 2019. PMID: 31571289
Congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome in humans is a genodermatosis characterized by inflammatory linear verrucous epidermal nevi (ILVEN), often showing a striking lateralization pattern. ...This analysis revealed a singl …
Congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome in humans is a genodermatosis characterized by inf …
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
Gantner S, Rütten A, Requena L, Gassenmaier G, Landthaler M, Hafner C. Gantner S, et al. J Cutan Pathol. 2014 Oct;41(10):787-90. doi: 10.1111/cup.12377. Epub 2014 Oct 18. J Cutan Pathol. 2014. PMID: 25093865
CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since chi …
CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woma …
Complex limbal choristomas in linear nevus sebaceous syndrome.
Duncan JL, Golabi M, Fredrick DR, Hoyt CS, Hwang DG, Kramer SG, Howes EL Jr, Cunningham ET Jr. Duncan JL, et al. Ophthalmology. 1998 Aug;105(8):1459-65. doi: 10.1016/S0161-6420(98)98029-0. Ophthalmology. 1998. PMID: 9709758
OBJECTIVE: This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear nevus sebaceous syndrome (LNSS), a rare disorder including nevus sebaceous, seizures, and mental retardation, and often …
OBJECTIVE: This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associate …
Bullous Pemphigoid Masquerading as Erythema Annulare Centrifugum.
Yu-Yang S, Chu-Sung Hu S, Yiao-Lin S. Yu-Yang S, et al. Acta Dermatovenerol Croat. 2017 Oct;25(3):255-256. Acta Dermatovenerol Croat. 2017. PMID: 29252183
There were no annular lesions at that time. After a treatment course of systemic corticosteroids and azathioprine, the cutaneous symptoms were controlled. ...The patient reported no mucosal involvement and took no new medications before the onset of skin lesions. On …
There were no annular lesions at that time. After a treatment course of systemic corticosteroids and azathioprine, the cutaneous symp …
Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome.
Enright F, Campbell P, Stallings RL, Hall K, Green AJ, Sweeney E, Barnes L, Watson R. Enright F, et al. Pediatr Dermatol. 2003 Mar-Apr;20(2):153-7. doi: 10.1046/j.1525-1470.2003.20213.x. Pediatr Dermatol. 2003. PMID: 12657015
We describe a 19-year-old girl who has clinical features of microphthalmia with linear skin defects (MLS) syndrome caused by a microdeletion of Xp22.3. In addition to the classical ocular abnormalities and linear skin defects she h …
We describe a 19-year-old girl who has clinical features of microphthalmia with linear skin defects (MLS) syndrome caus …
Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.
Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E. Schluth C, et al. Pathol Biol (Paris). 2007 Feb;55(1):29-36. doi: 10.1016/j.patbio.2006.04.003. Epub 2006 May 11. Pathol Biol (Paris). 2007. PMID: 16690229
The four other cases showed discrepancies between phenotype and X inactivation pattern: mental retardation and dysmorphism in a case of balanced X-autosome translocation, schizophrenia and autism in two cases of XX maleness and MLS syndrome (microphthalmia with linear s …
The four other cases showed discrepancies between phenotype and X inactivation pattern: mental retardation and dysmorphism in a case of bala …
Bronchial reactivity to cigarette smoke in smokers: repeatability, relationship to methacholine reactivity, smoking and atopy.
Jensen EJ, Dahl R, Steffensen F. Jensen EJ, et al. Eur Respir J. 1998 Mar;11(3):670-6. Eur Respir J. 1998. PMID: 9596120 Free article.
Bronchial reactivity to cigarette smoke (CBR) in a cross-section of 98 smokers has been investigated. All participants were subjects to skin-prick tests to common allergens, lung function measurements and bronchial challenges with methacholine and cigarette smoke. ...Bronc …
Bronchial reactivity to cigarette smoke (CBR) in a cross-section of 98 smokers has been investigated. All participants were subjects to s …