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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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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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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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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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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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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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Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

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

1999

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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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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

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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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Familial Cutaneous Collagenoma: A Clinicopathologic Study of Two New Cases

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

2004

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Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

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

1999

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

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

2005

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Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

Journal of investigative dermatology, 2010-06, Vol.130 (6), p.1543-1550

2010

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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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Circadian Pattern of Ambulatory Blood Pressure in Hypertensive Patients With and Without Type 2 Diabetes

Chronobiology international, 2013-03, Vol.30 (1-2), p.99-115

2013

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Congenital Aberrant Muscular Overgrowth of Hands and Feet in Patients With PIK3CA Overgrowth Spectrum: A Multicentric Study of Case Series

Journal of vascular anomalies (Philadelphia, Pa.), 2021-04, Vol.2 (2), p.e010

2021

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Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue

Journal of cutaneous pathology, 2007-02, Vol.34 (2), p.181-187

2007

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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

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

Dermatopatía asociada a leucoencefalopatía posterior reversible inducida por levamisol

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

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

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

Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

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

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

Familial Cutaneous Collagenoma: A Clinicopathologic Study of Two New Cases

Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

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

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

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

Circadian Pattern of Ambulatory Blood Pressure in Hypertensive Patients With and Without Type 2 Diabetes

Congenital Aberrant Muscular Overgrowth of Hands and Feet in Patients With PIK3CA Overgrowth Spectrum: A Multicentric Study of Case Series

Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue

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