| 1 |
Renpenning syndrome in a female.
61
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Cho RY...Lehman A
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31840929 |
2020 |
| 2 |
Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3.
61
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Saito S...Kubo A
|
31621111 |
2020 |
| 3 |
Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.
61
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Zhang Y...Wei A
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31486119 |
2019 |
| 4 |
Synchronous Triple Malignancies in an Indian Albino: A Case Report.
61
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Darlington D...Anitha FS
|
30364818 |
2018 |
| 5 |
Intralesional Injection of Triamcinolone Acetonide for Subcutaneous Lipoma causing Musculoskeletal and Neurologic Symptoms.
61
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Hayward WA...Kettwich SK
|
29785238 |
2018 |
| 6 |
Erythroderma and extensive poikiloderma - a rare initial presentation of dermatomyositis: a case report.
61
|
Herath HMMTB...Gunasekera CN
|
29571300 |
2018 |
| 7 |
A case series of imatinib-induced generalized hypopigmentation and progression of existing acquired dermal melanocytosis.
61
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Kok WL...Ng SK
|
28481685 |
2017 |
| 8 |
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
61
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Grandin V...de Saint Basile G
|
28585352 |
2017 |
| 9 |
Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling.
61
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Ozsu E...Bahm A
|
28915118 |
2017 |
| 10 |
Mutational analysis of a Chinese family with oculocutaneous albinism type 2.
61
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Wang X...Lu Y
|
29050284 |
2017 |
| 11 |
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
61
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Lu Q...Deng H
|
28112372 |
2017 |
| 12 |
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.
61
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Wu XL...Ma FT
|
28355352 |
2017 |
| 13 |
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
61
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Mauri L...Primignani P
|
27734839 |
2017 |
| 14 |
Atrophy and Depigmentation After Pretibial Corticosteroid Injection for Medial Tibial Stress Syndrome: Two Case Reports.
61
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Loopik MF...Moen MH
|
27632881 |
2016 |
| 15 |
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
61
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Galve J...Ferrando J
|
27416089 |
2016 |
| 16 |
How does agonistic behaviour differ in albino and pigmented fish?
61
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Slavik O...Wackermannova M
|
27114883 |
2016 |
| 17 |
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
61
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Straniero L...Primignani P
|
26016411 |
2015 |
| 18 |
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications.
61
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Pavone P...Falsaperla R
|
25586695 |
2015 |
| 19 |
Seizure as the presenting manifestation in Griscelli syndrome type 2.
61
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Panigrahi I...Behera B
|
25801174 |
2015 |
| 20 |
[Cutaneous atrophy and hypopigmentation secondary to intra-articular corticosteroid injection].
61
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Loarte Pasquel EP...Cabal Garcia AA
|
23583186 |
2014 |
| 21 |
The use of infrared radiation in the treatment of skin laxity.
61
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Felici M...Cervelli V
|
24215421 |
2014 |
| 22 |
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
61
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Rimoldi V...Primignani P
|
24361966 |
2014 |
| 23 |
Development of skin hypopigmentation in a patient with metastatic papillary carcinoma thyroid treated with Sorafenib.
61
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Hussain SZ...Islam N
|
23937803 |
2013 |
| 24 |
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
61
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Sanabria D...Lattig MC
|
23242301 |
2012 |
| 25 |
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
61
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Leger S...Pingault V
|
22258527 |
2012 |
| 26 |
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
61
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Carmona-Rivera C...Gahl WA
|
21833017 |
2011 |
| 27 |
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.
61
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Manga P...Orlow SJ
|
21968107 |
2011 |
| 28 |
Clinical characteristics and hematologic responses to Imatinib in patients with chronic phase myeloid leukemia (CML) at Cipto Mangunkusumo Hospital.
61
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Reksodiputro AH...Mulansari NA
|
20305324 |
2010 |
| 29 |
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
61
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Eigelshoven S...Kruse R
|
20199465 |
2009 |
| 30 |
Hypopigmentation of the skin due to imatinib mesylate in patients with chronic myeloid leukemia.
61
|
Aleem A
|
20118061 |
2009 |
| 31 |
Oculocutaneous albinism type 1A: a case report.
61
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Karaman A
|
19094851 |
2008 |
| 32 |
Oculocutaneous albinism.
61
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Gronskov K...Brondum-Nielsen K
|
17980020 |
2007 |
| 33 |
Vitiligo-like lesions and diffuse lightening of the skin in a pediatric patient treated with imatinib mesylate: a noninvasive colorimetric assessment.
61
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Brazzelli V...Borroni G
|
16650231 |
2006 |
| 34 |
Menkes syndrome: a case report.
61
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Kamolsilp M
|
16858971 |
2005 |
| 35 |
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.
61
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Sheela SR...Kaler SG
|
16098018 |
2005 |
| 36 |
Dyschromatosis universalis hereditaria: two cases in a Chinese family.
61
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Wang G...Liu YF
|
16045675 |
2005 |
| 37 |
Effectiveness of small-volume, intralesional, delayed-release triamcinolone injections in orofacial granulomatosis: a pilot study.
61
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Mignogna MD...Satriano RA
|
15280846 |
2004 |
| 38 |
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
61
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Sacharow SJ...Levy HL
|
20301697 |
2004 |
| 39 |
Oculocutaneous Albinism Type 2
61
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Lewis RA
|
20301410 |
2003 |
| 40 |
Depigmenting action of phenylhydroquinone, an O-phenylphenol metabolite, on the skin of JY-4 black guinea-pigs.
61
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Tayama K...Takahama M
|
12453187 |
2002 |
| 41 |
Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder.
61
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Ward DM...Kaplan J
|
12125812 |
2002 |
| 42 |
[Skin manifestations of Fanconi anemia].
61
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Ogilvie P...Hamm H
|
12053693 |
2002 |
| 43 |
Hermansky-Pudlak Syndrome
61
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Huizing M...Gahl WA
|
20301464 |
2000 |
| 44 |
Oculocutaneous Albinism Type 1
61
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Lewis RA
|
20301345 |
2000 |
| 45 |
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
61
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Kerr R...Ramsay M
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10649493 |
2000 |
| 46 |
Albinism.
61
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Oetting WS
|
10590917 |
1999 |
| 47 |
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.
61
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Boissy RE...Gahl WA
|
9759648 |
1998 |
| 48 |
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.
61
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Kagore F...Lund PM
|
8592327 |
1995 |
| 49 |
A high-resolution linkage map of the lethal spotting locus: a mouse model for Hirschsprung disease.
61
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Pavan WJ...Siracusa LD
|
7719019 |
1995 |
| 50 |
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
61
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Rinchik EM...Nicholls RD
|
8421497 |
1993 |
| 51 |
[Oculocutaneous albinism].
61
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Lacour JP...Ortonne JP
|
1416662 |
1992 |
| 52 |
Piebaldism: an autonomous autosomal dominant entity.
61
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Winship I...Beighton P
|
1860249 |
1991 |
| 53 |
Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.
61
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Winship IM...Beighton PH
|
2395158 |
1990 |
| 54 |
Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.
61
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Sybert VP...Bradley CM
|
2319405 |
1990 |
| 55 |
Chemical and pharmacologic agents that cause hyperpigmentation or hypopigmentation of the skin.
61
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Lerner EA...Sober AJ
|
3288388 |
1988 |
| 56 |
Familial spinocerebellar ataxia with skin hyperpigmentation.
61
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Daras M...David S
|
6886718 |
1983 |
| 57 |
Hyperpigmentation and hypopigmentation of the skin after long term PUVA therapy. Light and electron microscopic observations on three patients.
61
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Kanerva L...Lassus A
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7309935 |
1981 |
| 58 |
Epidermolysis bullosa simplex and mottled pigmentation: a new dominant syndrome. I. Clinical and histological features.
61
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Fischer T...Gedde-Dahl T
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421361 |
1979 |
Rare skin diseases 
