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Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin

Acta dermato-venereologica, 2021-02, Vol.101 (2), p.adv00397-adv00397

2021

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RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Human mutation, 2013-12, Vol.34 (12), p.1632-1641

2013

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Nevus Psiloliparus and Aplasia Cutis: A Further Possible Example of Didymosis

Pediatric dermatology, 2005-05, Vol.22 (3), p.206-209

2005

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Familial Cutaneous Collagenoma: A Clinicopathologic Study of Two New Cases

Pediatric dermatology, 2004-01, Vol.21 (1), p.33-38

2004

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Porokeratosis Plantaris, Palmaris et Disseminata Caused by Congenital Pathogenic Variants in the MVD Gene and Loss of Heterozygosity in Affected Skin

Acta dermato-venereologica, 2021-02, Vol.101 (2)

2021

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Cutis tricolor coexistent with cutis marmorata telangiectatica congenita : phacomatosis achromico-melano-marmorata

EJD. European journal of dermatology, 2008-07, Vol.18 (4), p.394-396

2008

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IFAP syndrome “plus” seizures, mental retardation, and callosal hypoplasia

Pediatric neurology, 2001-03, Vol.24 (3), p.228-231

2001

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Blue Rubber Bleb Nevus (Bean Syndrome): Evolution of Four Cases and Clinical Response to Pharmacologic Agents

Pediatric dermatology, 1999-05, Vol.16 (3), p.222-227

1999

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Dermatopathy associated with levamisole-induced reversible posterior leukoencephalopathy

Archivos argentinos de pediatría, 2008-02, Vol.106 (1), p.42

2008

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Extensive Symmetric Truncal Aplasia Cutis Congenita without Fetus Papyraceus or Macroscopic Evidence of Placental Abnormalities

Pediatric dermatology, 1995-09, Vol.12 (3), p.228-230

1995

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Dermatopatía asociada a leucoencefalopatía posterior reversible inducida por levamisol

Archivos argentinos de pediatría, 2008-02, Vol.106 (1), p.42-46

2008

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A Mosaic Pattern of Alopecia in the Oral‐Facial‐Digital Syndrome Type I (Papillon‐Léage and Psaume Syndrome)

Pediatric dermatology, 1999-09, Vol.16 (5), p.367-370

1999

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Cerebriform plantar hyperplasia: ultrastructural study of two cases

EJD. European journal of dermatology, 2000-10, Vol.10 (7), p.551-554

2000

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Costello syndrome : report of a new case with choanal atresia and fatal outcome

EJD. European journal of dermatology, 2001-09, Vol.11 (5), p.453-457

2001

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Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia : a severe manifestation of IFAP syndrome?

EJD. European journal of dermatology, 2000-03, Vol.10 (2), p.98-102

2000

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Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

Pediatric dermatology, 1999-03, Vol.16 (2), p.113-117

1999

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Phacomatosis pigmentokeratotica : another epidermal nevus syndrome and a distinctive type of twin spotting

EJD. European journal of dermatology, 2000-04, Vol.10 (3), p.190-194

2000

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Cockayne syndrome-findings in a patient with histiocytosis X: Skull and spine lesions, review of 18 cases

Pediatric neurology, 1992-09, Vol.8 (5), p.380-380

1992

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IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

American journal of human genetics, 2009-04, Vol.84 (4), p.459-467

2009

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Extensive Symmetric Truncal Aplasia Cutis Congenita without Fetus Papyraceus or Macroscopic Evidence of Placental Abnormalities

Pediatric Dermatology, 1995, Vol.12 (3), p.228-230

1995

Volltextzugriff (PDF)

Lack of effect of topical statins in linear porokeratosis

Journal of the European Academy of Dermatology and Venereology, 2021-01, Vol.35 (1), p.e26-e28

2021

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A Mosaic Pattern of Alopecia in the Oral-Facial-Digital Syndrome Type I (Papillon-Léage and Psaume Syndrome)

Pediatric Dermatology, 1999, Vol.16 (5), p.367-370

1999

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Association Between Parental Leave and Ophthalmology Resident Physician Performance

JAMA ophthalmology, 2022-11, Vol.140 (11), p.1066

2022

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Familial Cutaneous Collagenoma: A Clinicopathologic Study of Two New Cases

Pediatric Dermatology, 2004, Vol.21 (1), p.33-38

2004

Volltextzugriff (PDF)

Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

Pediatric Dermatology, 1999, Vol.16 (2), p.113-117

1999

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Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nevus Psiloliparus and Aplasia Cutis: A Further Possible Example of Didymosis

Familial Cutaneous Collagenoma: A Clinicopathologic Study of Two New Cases

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Congenital Pathogenic Variants in the MVD Gene and Loss of Heterozygosity in Affected Skin

Cutis tricolor coexistent with cutis marmorata telangiectatica congenita : phacomatosis achromico-melano-marmorata

IFAP syndrome “plus” seizures, mental retardation, and callosal hypoplasia

Blue Rubber Bleb Nevus (Bean Syndrome): Evolution of Four Cases and Clinical Response to Pharmacologic Agents

Dermatopathy associated with levamisole-induced reversible posterior leukoencephalopathy

Extensive Symmetric Truncal Aplasia Cutis Congenita without Fetus Papyraceus or Macroscopic Evidence of Placental Abnormalities

Dermatopatía asociada a leucoencefalopatía posterior reversible inducida por levamisol

A Mosaic Pattern of Alopecia in the Oral‐Facial‐Digital Syndrome Type I (Papillon‐Léage and Psaume Syndrome)

Cerebriform plantar hyperplasia: ultrastructural study of two cases

Costello syndrome : report of a new case with choanal atresia and fatal outcome

Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia : a severe manifestation of IFAP syndrome?

Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

Phacomatosis pigmentokeratotica : another epidermal nevus syndrome and a distinctive type of twin spotting

Cockayne syndrome-findings in a patient with histiocytosis X: Skull and spine lesions, review of 18 cases

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Extensive Symmetric Truncal Aplasia Cutis Congenita without Fetus Papyraceus or Macroscopic Evidence of Placental Abnormalities

Lack of effect of topical statins in linear porokeratosis

A Mosaic Pattern of Alopecia in the Oral-Facial-Digital Syndrome Type I (Papillon-Léage and Psaume Syndrome)

Association Between Parental Leave and Ophthalmology Resident Physician Performance

Familial Cutaneous Collagenoma: A Clinicopathologic Study of Two New Cases

Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

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