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Results for
""Cutis Laxa""[mesh_terms]

15 Results

Searching titles within these results

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

S De Feyter, A Beyens, B Callewaert

Journal of inherited metabolic disease 2023;46(2):163-173

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Inborn errors of copper metabolism.

Stephen G Kaler

Handbook of clinical neurology 2014;113():1745-54

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Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

David F G J Wolthuis, Ellyze van Asbeck, Miski Mohamed, Thatjana Gardeitchik, Elizabeth R Lim-Melia, Ron A Wevers, Eva Morava

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2015;18(4):511-5

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Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.

Zsolt Urban, Elaine C Davis

Matrix biology : journal of the International Society for Matrix Biology 2014;33():16-22

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Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.

Shriprasad Deshpande, Adina Alazraki, Nasim Khoshnam, Diana Kantarovich, Pooya Hoseinzadeh, Camden Hebson, Ajay Bhatia, Lauren Schaffer, Elana Maccou, Bahig M Shehata

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2018;31():34-40

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Novel Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Karin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič Meglič, Borut Peterlin, Lea Leonardis

Genes 2025;16(9):

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Translational research investigations on ATP7A: an important human copper ATPase.

Stephen G Kaler

Annals of the New York Academy of Sciences 2014;1314():64-8

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Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome.

Eishin Ogawa, Hiroko Kodama

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) 2012;26(2-3):102-4

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A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

Laia Rodriguez-Revenga, Pilar Iranzo, Cèlia Badenas, Susana Puig, Ana Carrió, Montserrat Milà

Archives of dermatology 2004;140(9):1135-9

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Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Björn Fischer, Bert Callewaert, Phillipe Schröter, Paul J Coucke, Claire Schlack, Claus-Eric Ott, Manrico Morroni, Wolfgang Homann, Stefan Mundlos, Eva Morava, Anna Ficcadenti, Uwe Kornak

Molecular genetics and metabolism 2015;112(4):310-6

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Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity.

Linhua Li, Yujia Ye, Peng Sang, Yirui Yin, Wei Hu, Jing Wang, Chao Zhang, Deyun Li, Wen Wan, Rui Li, Longjun Li, Linling Ma, Yuehui Xie, Zhaohui Meng

BioMed research international 2017;2017():4184106

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Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, Sofie Symoens, Bert Callewaert

Genes 2020;10(7):528

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Fibulin 5 forms a compact dimer in physiological solutions.

Richard P O Jones, Ming-Chuan Wang, Thomas A Jowitt, Caroline Ridley, Kieran T Mellody, Marjorie Howard, Tao Wang, Paul N Bishop, Andrew J Lotery, Cay M Kielty, Clair Baldock, Dorothy Trump

The Journal of biological chemistry 2009;284(38):25938-43

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A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Gonzalo Perez-Siles, Bianca R Grosz, Melina Ellis, Jonathan Baets, Ataf Sabir, Mary O'Driscoll, Rita Horvath, Kleopas A Kleopa, Sharon La Fontaine, Pontus Gourdon, Steve Vucic, Marina L Kennerson

Human molecular genetics 2026;35(14):

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First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

Jean-Marie Ravel, Margot Comel, Marion Wandzel, Myriam Bronner, Aurélie Tatopoulos, Mathilde Renaud, Laëtitia Lambert, Anne-Claire Bursztejn, Céline Bonnet

American journal of medical genetics. Part A 2022;188(11):3343-3349

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Results: 1 – 15 / 15

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Results for ""Cutis Laxa""[mesh_terms]

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

Inborn errors of copper metabolism.

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.

Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.

Novel Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Translational research investigations on ATP7A: an important human copper ATPase.

Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome.

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity.

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

Fibulin 5 forms a compact dimer in physiological solutions.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

Results for
""Cutis Laxa""[mesh_terms]