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La ricerca find articoli where soggetti phrase all words 'HYPOMELANOSIS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 94 riferimenti
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    1. Coward, RJM; Risdon, RA; Bingham, C; Hattersley, AT; Woolf, AS
      Kidney disease in hypomelanosis of Ito

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    2. Kuwahara, RT; Henson, T; Tunca, Y; Wilroy, SW
      Hyperpigmentation along the lines of Blaschko with associated chromosome 14 mosaicism

      PEDIATRIC DERMATOLOGY
    3. Waters, JJ; Campbell, PL; Crocker, AJM; Campbell, CM
      Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories

      HUMAN GENETICS
    4. Restano, L; Barbareschi, M; Cambiaghi, S; Gelmetti, C; Ghislanzoni, M; Caputo, R
      Heterochromia of the scalp hair: A result of pigmentary mosaicism?

      JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
    5. Baty, BJ; Olson, SB; Magenis, RE; Carey, JC
      Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation andnormal intellectual development

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Happle, R
      Phylloid hypomelanosis and mosaic trisomy 13: A new etiologically defined neurocutaneous syndrome

      HAUTARZT
    7. Khumalo, NP; Huson, S; Burge, S
      Development of lentigines within naevoid hypopigmentation

      BRITISH JOURNAL OF DERMATOLOGY
    8. Happle, R
      Phylloid hypomelanosis is closely related to mosaic trisomy 13

      EUROPEAN JOURNAL OF DERMATOLOGY
    9. Steijlen, PM; Vietor, HE; van Steensel, MAM; Happle, R
      Sweat testing in hypomelanosis of Ito: divergent results reflecting genetic heterogeneity

      EUROPEAN JOURNAL OF DERMATOLOGY
    10. Yu, TW; Tsau, YK; Young, C; Chiu, HC; Shen, YZ
      Epidermal nevus syndrome with hypermelanosis and chronic hyponatremia

      PEDIATRIC NEUROLOGY
    11. Ruggieri, M; Pavone, L
      Hypomelanosis of ito: Clinical syndrome or just phenotype?

      JOURNAL OF CHILD NEUROLOGY
    12. Selvaag, E; Aas, ALM; Heide, S
      Structural hair shaft abnormalities in hypomelanosis of Ito and other ectodermal dysplasias

      ACTA PAEDIATRICA
    13. Rivera, H; Correa-Cerro, LS; Robinson, DO; Crolla, JA
      Functional Xp disomy and hypomelanosis of Ito

      ARCHIVES OF MEDICAL RESEARCH
    14. Wolpert, CM; Menold, MM; Bass, MP; Qumsiyeh, MB; Donnelly, SL; Ravan, SA; Vance, JM; Gilbert, JR; Abramson, RK; Wright, HH; Cuccaro, ML; Pericak-Vance, MA
      Three probands with autistic disorder and isodicentric chromosome 15

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Kayser, M; Henderson, LB; Kreutzman, J; Schreck, R; Graham, JM
      Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Knopf, C; Rod, R; Jaeken, J; Berant, M; Van Schaftingen, E; Fryns, JP; Brill-Zamir, R; Gershoni-Baruch, R; Lischinsky, S; Mandel, H
      Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

      JOURNAL OF INHERITED METABOLIC DISEASE
    17. Dereser-Dennl, M; Brude, E; Konig, R
      Hypomelanosis of Ito in a case of trisomy 9 mosaicism (46,XX/46,XX,t(9;9) (p24;p24)): Spontaneous resolution of skin lesions during childhood

      HAUTARZT
    18. Tunca, Y; Wilroy, RS; Kadandale, JS; Martens, PR; Gunther, WM; Tharapel, AT
      Hypomelanosis of Ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism

      ANNALES DE GENETIQUE
    19. Di Lernia, V
      Segmental nevus depigmentosus: Analysis of 20 patients

      PEDIATRIC DERMATOLOGY
    20. Thomas, NS; Sharp, AJ; Browne, CE; Skuse, D; Hardie, C; Dennis, NR
      Xp deletions associated with autism in three females

      HUMAN GENETICS
    21. Lee, HS; Chun, YS; Hann, SK
      Nevus depigmentosus: Clinical features and histopathologic characteristicsin 67 patients

      JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
    22. Verghese, S; Newlin, A; Miller, M; Burton, BK
      Mosaic trisomy 7 in a patient with pigmentary abnormalities

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Magenis, E; Webb, MJ; Spears, B; Opitz, JM
      Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Kuster, W; Konig, A
      Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Zaslav, AL; Fallet, S; Blumenthal, D; Jacob, J; Fox, J
      Mosaicism with a normal cell line and an unbalanced structural rearrangement

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Venizelos, A; Benetti, DD
      Pigment abnormalities in flatfish

      AQUACULTURE
    27. Portnoi, MF; Boutchnei, S; Bouscarat, F; Morlier, G; Nizard, S; Dersarkissian, H; Crickx, B; Nouchy, M; Taillemite, JL; Belaich, S
      Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q

      JOURNAL OF MEDICAL GENETICS
    28. Pagnoni, A; Kligman, AM; Sadiq, I; Stoudemayer, T
      Hypopigmented macules of photodamaged skin and their treatment with topical tretinoin

      ACTA DERMATO-VENEREOLOGICA
    29. HAENEN I; VANQUICKENBORNE L; KERRE S; DEGREEF H
      HYPOMELANOSIS OF ITO

      Dermatology
    30. PILLAY T; WINSHIP WS; RAMDIAL PK
      PIGMENTARY ABNORMALITIES IN TRISOMY OF CHROMOSOME-13

      Clinical dysmorphology
    31. CLAUDEL P; LABBE L; PEDESPAN JM; LABREZE C; TAIEB A
      LINEAR AND WHORLED NEVOID HYPERMELANOSIS - REPORT OF 2 CASES

      Archives de pediatrie
    32. CELLINI A; MORRONI M; SIMONETTI O; OFFIDANI A
      HYPOMELANOSIS OF ITO - A CASE-REPORT WITH CLINICAL AND ULTRASTRUCTURAL DATA

      JEADV. Journal of the European Academy of Dermatology and Venereology
    33. PASCUALCASTROVIEJO I; ROCHE C; MARTINEZBERMEJO A; ARCAS J; LOPEZMARTIN V; TENDERO A; ESQUIROZ JLH; PASCUALPASCUAL SI
      HYPOMELANOSIS OF ITO - A STUDY OF 76 INFANTILE CASES

      Brain & development
    34. DIETRICH RB; GLIDDEN DE; ROTH GM; MARTIN RA; DEMO DS
      THE PROTEUS SYNDROME - CNS-MANIFESTATIONS

      American journal of neuroradiology
    35. BOLOGNIA JL; LAZOVA R; WATSKY K
      THE DEVELOPMENT OF LENTIGINES WITHIN SEGMENTAL ACHROMIC NEVI

      Journal of the American Academy of Dermatology
    36. BASELGA E; DROLET BA; VANTUINEN P; ESTERLY NB; HAPPLE R
      DYSKERATOSIS-CONGENITA WITH LINEAR AREAS OF SEVERE CUTANEOUS INVOLVEMENT

      American journal of medical genetics
    37. FLEJTER WL; ISSA B; SULLIVAN BA; CAREY JC; BROTHMAN AR
      VARIEGATED ANEUPLOIDY IN 2 SIBLINGS - PHENOTYPE, GENOTYPE, CENP-E ANALYSIS, AND LITERATURE-REVIEW

      American journal of medical genetics
    38. HOFMANN U; WAGNER N; GRIMM T; BROCKER EB; HAMM H
      LINEAR AND WHORLED NEVOID HYPERMELANOSIS - CASE-REPORT AND REVIEW OF THE LITERATURE

      Hautarzt
    39. EGGERMAN T; MAU U; KLEINVOGLER U; KENDZIORRA H; MACKENSENHAEN S; SIEVERDING L; ENDERS H; KAISER P
      MOLECULAR AND CYTOGENATE ANALYSIS OF AN X AUTOSOMAL TRANSLOCATION - 45,X,DIC(X-17)(P22.2-P13)/

      Clinical genetics
    40. VONASTER M; ZACHMANN M; BRANDEIS D; WOHLRAB G; RICHNER M; STEINHAUSEN HC
      PSYCHIATRIC, NEUROPEDIATRIC, AND NEUROPSYCHOLOGICAL SYMPTOMS IN A CASE OF HYPOMELANOSIS OF ITO

      European child & adolescent psychiatry
    41. LESTRINGANT GG; TOPLEY J; SZTRIHA L; FROSSARD PM
      HYPOMELANOSIS OF ITO MAY OR MAY NOT INVOLVE HAIR-GROWTH

      Dermatology
    42. ZAJAC V; KIRCHHOFF T; LEVY ER; HORSLEY SW; MILLER A; STEICHENGERSDORF E; MONACO AP
      CHARACTERIZATION OF X-17(Q12-P13) TRANSLOCATION BREAKPOINTS IN A FEMALE-PATIENT WITH HYPOMELANOSIS OF ITO AND CHOROID-PLEXUS PAPILLOMA

      European journal of human genetics
    43. HORN D; ROMMECK M; SOMMER D; KORNER H
      PHYLLOID PIGMENTARY PATTERN WITH MOSAIC TRISOMY-13

      Pediatric dermatology
    44. CHEVALLIER C; COLON S; FARAJ G; BOUVIER R; PINCON JA; COCHAT P
      GLOMERULONEPHRITIS ASSOCIATED WITH HYPOMELANOSIS OF ITO

      Nephrologie
    45. CURRY CJ; STEVENSON RE; AUGHTON D; BYRNE J; CAREY JC; CASSIDY S; CUNNIFF C; GRAHAM JM; JONES MC; KABACK MM; MOESCHLER J; SCHAEFER GB; SCHWARTZ S; TARLETON J; OPITZ J
      EVALUATION OF MENTAL-RETARDATION - RECOMMENDATIONS OF A CONSENSUS CONFERENCE

      American journal of medical genetics
    46. CROWE CA; SCHWARTZ S; BLACK CJ; JASWANEY V
      MOSAIC TRISOMY-22 - A CASE PRESENTATION AND LITERATURE-REVIEW OF TRISOMY-22 PHENOTYPES

      American journal of medical genetics
    47. GUILLET G; GUILLET MH
      CREOLE DYSCHROMIA OR IDIOPATHIC MACULAR HYPOMELANOSIS OF MELANODERMICHALFCASTS

      Bulletin de la Societe de pathologie exotique et de ses filiales
    48. CORREACERRO LS; RIVERA H; VASQUEZ AI
      FUNCTIONAL XP DISOMY AND DE-NOVO T(X-13)(Q10-Q10) IN A GIRL WITH HYPOMELANOSIS OF ITO

      Journal of Medical Genetics
    49. SCHILLER M; METZE D; BOHM M
      IDIOPATHIC GUTTATE HYPOMELANOSIS

      Hautarzt
    50. SCHAEFER GB; JOCHAR A; MUNEER R; SANGER WG
      CLINICAL VARIABILITY OF TETRASOMY 12P

      Clinical genetics
    51. LLOYD IC; HAIGH PM; CLAYTONSMITH J; CLAYTON P; PRICE DA; RIDGWAY AEA; DONNAI D
      ANTERIOR SEGMENT DYSGENESIS IN MOSAIC TURNER SYNDROME

      British journal of ophthalmology
    52. LEPOOLE C; BOISSY RE
      VITILIGO

      Seminars in cutaneous medicine and surgery
    53. LOOMIS CA
      LINEAR HYPOPIGMENTATION AND HYPERPIGMENTATION, INCLUDING MOSAICISM

      Seminars in cutaneous medicine and surgery
    54. FRANCIS JS; SYBERT VP
      INCONTINENTIA PIGMENTI

      Seminars in cutaneous medicine and surgery
    55. BALLMERWEBER BK; INAEBNIT D; BRAND CU; BRAATHEN LR
      SPORADIC HYPOMELANOSIS OF ITO WITH FOCAL HYPERTRICHOSIS IN A 16-MONTH-OLD GIRL

      Dermatology
    56. CAVALLARI V; USSIA AF; SIRAGUSA M; SCHEPIS C
      HYPOMELANOSIS OF ITO - ELECTRON-MICROSCOPIC OBSERVATIONS ON 2 NEW CASES

      Journal of dermatological science
    57. URGELLES E; PASCUALCASTROVIEJO I; ROCHE C; MONEO JLH; MARTINEZ MA; VEGA A
      ARTERIOVENOUS MALFORMATION IN HYPOMELANOSIS OF ITO

      Brain & development
    58. STEINER J; ADAMSBAUM C; DESGUERRES I; LALANDE G; RAYNAUD F; PONSOT G; KALIFA G
      HYPOMELANOSIS OF ITO AND BRAIN ABNORMALITIES - MRI FINDINGS AND LITERATURE-REVIEW

      Pediatric radiology
    59. LEVY ML; LEWIS RA
      UNTITLED

      Retina
    60. LUEDER GT; SOLTAU J
      UNTITLED - REPLY

      Retina
    61. BERMEJO F; DOOMS G
      CEREBRAL MAGNETIC-RESONANCE-IMAGING IN A 2-YEAR-OLD CAUCASIAN GIRL, WITH HYPOMELANOSIS OF ITO

      Journal of neuroradiology
    62. FRYBURG JS; LIN KY; MATSUMOTO J
      ABNORMAL HEAD MRI IN A NEUROLOGICALLY NORMAL BOY WITH HYPOMELANOSIS OF ITO

      American journal of medical genetics
    63. FERREIRA APS; MAZZUCATTO LF; RAMOS ES; PINANETO JM
      TRISOMY-13 MOSAICISM DEMONSTRATED ONLY IN SKIN FIBROBLASTS IN A PATIENT PRESENTING PSYCHOMOTOR RETARDATION, PIGMENTARY DYSPLASIA AND SOME DYSMORPHIC FEATURES

      Brazilian journal of genetics
    64. BRAHAM N; LARNAOUT A; SAMOUD A; BENDRIDI MF
      HYPOMELANOSIS OF ITO WITH BILATERAL PUTAM EN CALCIFICATION OR HEMIMEGALENCEPHALY

      Annales de pediatrie
    65. VANDERHOOFT SL; FRANCIS JS; PAGON RA; SMITH LT; SYBERT VP
      PREVALENCE OF HYPOPIGMENTED MACULES IN A HEALTHY POPULATION

      The Journal of pediatrics
    66. HATCHWELL E
      HYPOMELANOSIS OF ITO AND X-AUTOSOME TRANSLOCATIONS - A UNIFYING HYPOTHESIS

      Journal of Medical Genetics
    67. HATCHWELL E; ROBINSON D; CROLLA JA; COCKWELL AE
      X INACTIVATION ANALYSIS IN A FEMALE WITH HYPOMELANOSIS OF ITO ASSOCIATED WITH A BALANCED X-17 TRANSLOCATION - EVIDENCE FOR FUNCTIONAL DISOMY OF XP

      Journal of Medical Genetics
    68. GORDON N
      EPILEPSY AND DISORDERS OF NEURONAL MIGRATION .1. INTRODUCTION

      Developmental Medicine and Child Neurology
    69. BOON C; MARKELLO T; JACKSONCOOK C; PANDYA A
      PARTIAL TRISOMY-10 MOSAICISM WITH CUTANEOUS MANIFESTATIONS - REPORT OF A CASE AND REVIEW OF THE LITERATURE

      Clinical genetics
    70. NEHAL KS; PEBENITO R; ORLOW SJ
      ANALYSIS OF 54 CASES OF HYPOPIGMENTATION AND HYPERPIGMENTATION ALONG THE LINES OF BLASCHKO

      Archives of dermatology
    71. HAPPLE R
      WHAT IS A NEVUS - A PROPOSED DEFINITION OF A COMMON MEDICAL TERM

      Dermatology
    72. FUJINO O; HASHIMOTO K; FUJITA T; ENOKIDO H; KOMATSUZAKI H; ASANO G; SATO J; MORIMATSU Y
      CLINICO-NEUROPATHOLOGICAL STUDY OF INCONTINENTIA PIGMENTI ACHROMIANS - AN AUTOPSY CASE

      Brain & development
    73. PINI G; FAULKNER LB
      CEREBELLAR INVOLVEMENT IN HYPOMELANOSIS OF ITO

      Neuropediatrics
    74. SKARIA A; FELDMANN R; HAUSER C
      THE CLINICAL SPECTRUM OF FOCAL DERMAL HYP OPLASIA

      Hautarzt
    75. GILLBERG C
      ENDOGENOUS OPIOIDS AND OPIATE ANTAGONISTS IN AUTISM - BRIEF REVIEW OFEMPIRICAL-FINDINGS AND IMPLICATIONS FOR CLINICIAN

      Developmental Medicine and Child Neurology
    76. TAGAWA T; OTANI K; FUTAGI Y; WAKAYAMA A; MORIMOTO K; MORITA Y
      SERIAL IMP-SPECT AND EEG STUDIES IN AN INFANT WITH HEMIMEGALENCEPHALY

      Brain & development
    77. OGINO T; HATA H; MINAKUCHI E; IYODA K; NARAHARA K; OHTAHARA S
      NEUROPHYSIOLOGIC DYSFUNCTION IN HYPOMELANOSIS OF ITO - EEG AND EVOKED-POTENTIAL STUDIES

      Brain & development
    78. HERRANZ P; BORBUJO J; MARTINEZ W; VIDAURRAZAGA C; DIAZ R; CASADO M
      RUBINSTEIN-TAYBI-SYNDROME WITH PIEBALDISM

      Clinical and experimental dermatology
    79. AKIYAMA M; ARANAMI A; SASAKI Y; EBIHARA T; SUGIURA M
      FAMILIAL LINEAR AND WHORLED NEVOID HYPERMELANOSIS

      Journal of the American Academy of Dermatology
    80. CARAKUSHANSKY G; TEICH E; RIBEIRO MG; HOROWITZ DDG; PELLEGRINI S
      DIPLOID TRIPLOID MOSAICISM - FURTHER DELINEATION OF THE PHENOTYPE/

      American journal of medical genetics
    81. DONNAI D
      DYSMORPHIC DISORDERS - AN OVERVIEW

      Journal of inherited metabolic disease
    82. ROTT HD; BASSL V; HAMMERSEN G
      ITO SYNDROME - CLINICAL AND GENETIC-ASPEC TS

      Monatsschrift fur Kinderheilkunde
    83. WOODS CG; BANKIER A; CURRY J; SHEFFIELD LJ; SLANEY SF; SMITH K; VOULLAIRE L; WELLESLEY D
      ASYMMETRY AND SKIN PIGMENTARY ANOMALIES IN CHROMOSOME MOSAICISM

      Journal of Medical Genetics
    84. GARDNER RJM; DOCKERY HE; FITZGERALD PH; PARFITT RG; ROMAIN DR; SCOBIE N; SHAW RL; TUMEWU P; WATT AJ
      MOSAICISM WITH A NORMAL-CELL LINE AND AN AUTOSOMAL STRUCTURAL REARRANGEMENT

      Journal of Medical Genetics
    85. HARRE J; MILLIKAN LE
      LINEAR AND WHORLED PIGMENTATION

      International journal of dermatology
    86. SYBERT VP
      INCONTINENTIA PIGMENTI NOMENCLATURE

      American journal of human genetics
    87. OHMURO K; OKADA K; SATOH A; MURAKAMI K; SATAKE S; ASAHINA M; NUMAKUNAI S; OHSHIMA K
      MORPHOGENESIS OF COMPOUND MELANOSOMES IN MELANOMA-CELLS OF A GRAY HORSE

      Journal of veterinary medical science
    88. DAUBENEY PEF; PAL K; STANHOPE R
      HYPOMELANOSIS OF ITO AND PRECOCIOUS PUBERTY

      European journal of pediatrics
    89. MALHERBE V; PARIENTE D; TARDIEU M; LACROIX C; VENENCIE PY; HIBON D; VEDRENNE J; LANDRIEU P
      CENTRAL-NERVOUS-SYSTEM LESIONS IN HYPOMELANOSIS OF ITO - AN MRI AND PATHOLOGICAL-STUDY

      Journal of neurology
    90. EMERY MM; SIEGFRIED EC; STONE MS; STONE EM; PATIL SR
      INCONTINENTIA PIGMENTI - TRANSMISSION FROM FATHER TO DAUGHTER

      Journal of the American Academy of Dermatology
    91. KOIFFMANN CP; DESOUZA DH; DIAMENT A; VENTURA HB; ALVES RS; KIHARA S; WAJNTAL A
      INCONTINENTIA PIGMENTI ACHROMIANS (HYPOMELANOSIS OF ITO, MIM 146150) - FURTHER EVIDENCE OF LOCALIZATION AT XP11

      American journal of medical genetics
    92. MOSS C; LARKINS S; STACEY M; BLIGHT A; FARNDON PA; DAVISON EV
      EPIDERMAL MOSAICISM AND BLASCHKO LINES

      Journal of Medical Genetics
    93. BOCIAN E; MAZURCZAK T; BULAWA E; STANCZAK H; ROWICKA G
      TRIPLE STRUCTURAL MOSAICISM OF CHROMOSOME-18 IN A CHILD WITH MR MCA SYNDROME AND ABNORMAL SKIN PIGMENTATION/

      Journal of Medical Genetics
    94. MOTTE J; BILLARD C; FEJERMAN N; SFAELLO Z; ARROYO H; DULAC O
      NEUROFIBROMATOSIS TYPE ONE AND WEST SYNDROME - A RELATIVELY BENIGN ASSOCIATION

      Epilepsia


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Documento generato il 22/10/20 alle ore 08:43:46