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    1. Winter, RM
      Editorial comment - Cerebro-fronto-facial syndrome: three types?

      CLINICAL DYSMORPHOLOGY
    2. de Vries, BBA; van't Hoff, WG; Surtees, RAH; Winter, RM
      Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay

      CLINICAL DYSMORPHOLOGY
    3. Rickard, S; Parker, M; van't Hoff, W; Barnicoat, A; Russell-Eggitt, I; Winter, RM; Bitner-Glindzicz, H
      Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

      HUMAN GENETICS
    4. de Vries, BBA; Lees, M; Knight, SJL; Regan, R; Corney, D; Flint, J; Barnicoat, A; Winter, RM
      Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Eng, C; Thiele, H; Zhou, XP; Gorlin, RJ; Hennekam, RCM; Winter, RM
      PTEN mutations and Proteus syndrome - Reply

      LANCET
    6. Zhou, XP; Hampel, H; Thiele, H; Gorlin, RJ; Hennekam, RCM; Parisi, M; Winter, RM; Eng, C
      Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

      LANCET
    7. de Vries, BBA; White, SM; Knight, SJL; Regan, R; Homfray, T; Young, ID; Super, M; McKeown, C; Splitt, M; Quarrell, OWJ; Trainer, AH; Niermeijer, MF; Malcolm, S; Flint, J; Hurst, JA; Winter, RM
      Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

      JOURNAL OF MEDICAL GENETICS
    8. De Vries, BBA; Knight, SJL; Homfray, T; Smithson, SF; Flint, J; Winter, RM
      Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

      JOURNAL OF MEDICAL GENETICS
    9. Christie, PT; Curley, A; Nesbit, MA; Chapman, C; Genet, S; Harper, PS; Keeling, SL; Wilkie, AOM; Winter, RM; Thakker, RV
      Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    10. Bacchelli, C; Goodman, FR; Scambler, PJ; Winter, RM
      Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN

      CLINICAL GENETICS
    11. Winter, RM
      Rosedale Presbyterians and the Mississippi Chinese: Changing concepts of equality in an aristocratic Southern town (Observations on rural social order, racial and cultural diversity, and educational advancement in the American South)

      JOURNAL OF PRESBYTERIAN HISTORY
    12. Winter, RM
      Division and Reunion in the Presbyterian Church of the United-States: A Mississippi retrospective - A theological reassessment of civil-rights and conservative secessionist agitation within Souther Presbyterianism

      JOURNAL OF PRESBYTERIAN HISTORY
    13. Plomp, AS; Reardon, W; Benton, S; Taylor, D; Larcher, VF; Sundrum, R; Winter, RM
      An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities

      CLINICAL DYSMORPHOLOGY
    14. Hilhorst-Hofstee, Y; Shah, N; Atherton, D; Harper, JI; Milla, P; Winter, RM
      Radial aplasia, poikiloderma and auto-immune enterocolitis - new syndrome or severe form of Rothmund-Thomson syndrome?

      CLINICAL DYSMORPHOLOGY
    15. Smithson, SF; Thompson, EM; McKinnon, AG; Smith, IS; Winter, RM
      The KBG syndrome

      CLINICAL DYSMORPHOLOGY
    16. Plomp, AS; Baraitser, M; Slaney, SF; Winter, RM
      Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

      CLINICAL DYSMORPHOLOGY
    17. Cabibil, HL; Pham, V; Lozano, J; Celio, H; Winter, RM; White, JM
      Self-organized fibrous nanostructures on poly[(aminopropyl)siloxane] filmsstudied by atomic force microscopy

      LANGMUIR
    18. Prescott, NJ; Lees, MM; Winter, RM; Malcolm, S
      Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

      HUMAN GENETICS
    19. Robertson, SP; Shears, DJ; Oei, P; Winter, RM; Scambler, PJ; Aftimos, S; Savarirayan, R
      Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

      JOURNAL OF MEDICAL GENETICS
    20. Reardon, W; Smith, A; Honour, JW; Hindmarsh, P; Das, D; Rumsby, G; Nelson, I; Malcolm, S; Ades, L; Sillence, D; Kumar, D; DeLozier-Blanchet, C; McKee, S; Kelly, T; McKeehan, WL; Baraitser, M; Winter, RM
      Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

      JOURNAL OF MEDICAL GENETICS
    21. de Vries, BBA; Bitner-Glindzicz, M; Knight, SJL; Tyson, J; MacDermot, KD; Flint, J; Malcolm, S; Winter, RM
      A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

      CLINICAL GENETICS
    22. Hagan, DM; Ross, AJ; Strachan, T; Lynch, SA; Ruiz-Perez, V; Wang, YM; Scambler, P; Custard, E; Reardon, W; Hassan, S; Muenke, M; Nixon, P; Papapetrou, C; Winter, RM; Edwards, Y; Morrison, K; Barrow, M; Cordier-Alex, MP; Correia, P; Galvin-Parton, PA; Gaskill, S; Gaskin, KJ; Garcia-Minaur, S; Gereige, R; Hayward, R; Homfray, T; McKeown, C; Murday, V; Plauchu, H; Shannon, N; Spitz, L; Lindsay, S
      Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. Guest, SS; Evans, CD; Winter, RM
      The online London dysmorphology database

      GENETICS IN MEDICINE
    24. Marsh, DJ; Kum, JB; Lunetta, KL; Bennett, MJ; Gorlin, RJ; Ahmed, SF; Bodurtha, J; Crowe, C; Curtis, MA; Dasouki, M; Dunn, T; Feit, H; Geraghty, MT; Graham, JM; Hodgson, SV; Hunter, A; Korf, BR; Manchester, D; Miesfeldt, S; Murday, VA; Nathanson, KL; Parisi, M; Pober, B; Romano, C; Tolmie, JL; Trembath, R; Winter, RM; Zackai, EH; Zori, RT; Weng, LP; Dahia, PLM; Eng, C
      PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

      HUMAN MOLECULAR GENETICS
    25. Slaney, SF; Hall, CM; Atherton, DJ; Winter, RM
      A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia

      CLINICAL DYSMORPHOLOGY
    26. Slaney, SF; Chong, WK; Winter, RM
      A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia

      CLINICAL DYSMORPHOLOGY
    27. Cross, WM; Ma, S; Winter, RM; Kellar, JJ
      FT-IR/ATR and SEM study of colloidal particle deposition

      COLLOIDS AND SURFACES A-PHYSICOCHEMICAL AND ENGINEERING ASPECTS
    28. Johnson, FJ; Pommer, AG; Vernon, MS; Winter, RM; Cross, WM; Kellar, JJ
      Preparation of magnesium hydroxide surfaces as a model for flame retardantfillers

      MINERALS & METALLURGICAL PROCESSING
    29. Wang, J; Spitz, L; Hayward, R; Kiely, E; Hall, CM; O'Donoghue, DP; Palmer, R; Goodman, FR; Scambler, PJ; Winter, RM; Reardon, W
      Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families

      EUROPEAN JOURNAL OF PEDIATRICS
    30. Slaney, SF; Goodman, FR; Eilers-Walsman, BLC; Hall, BD; Williams, DK; Young, ID; Hayward, RD; Jones, BM; Christianson, AL; Winter, RM
      Acromelic frontonasal dysostosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Knight, SJL; Regan, R; Nicod, A; Horsley, SW; Kearney, L; Homfray, T; Winter, RM; Bolton, P; Flint, J
      Subtle chromosomal rearrangements in children with unexplained mental retardation

      LANCET
    32. Lees, MM; Winter, RM; Malcolm, S; Saal, HM; Chitty, L
      Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32

      JOURNAL OF MEDICAL GENETICS
    33. Pulleyn, LJ; Winter, RM; Reardon, W; McKeown, C; Jones, B; Hayward, R; Evans, R; Malcolm, S
      Further evidence from two families that craniofrontonasal dysplasia maps to Xp22

      CLINICAL GENETICS
    34. CONNELL ME; CROSS WM; SNYDER TG; WINTER RM; KELLAR JJ
      DIRECT MONITORING OF SILANE EPOXY INTERPHASE CHEMISTRY/

      Composites. Part A, Applied science and manufacturing
    35. SHEARS DJ; VASSAL HJ; GOODMAN FR; PALMER RW; REARDON W; SUPERTIFURGA A; SCAMBLER PJ; WINTER RM
      MUTATION AND DELETION OF THE PSEUDOAUTOSOMAL GENE SHOX CAUSE LERI-WEILL DYSCHONDROSTEOSIS

      Nature genetics
    36. LEES MM; WINTER RM; CHITTY L
      POPLITEAL PTERYGIUM SYNDROME - A CLINICAL AND MOLECULAR STUDY

      European journal of human genetics
    37. LEES MM; PRESCOTT N; WINTER RM; MALCOLM S
      NON-SYNDROMIC CLEFT-LIP AND PALATE - A GENOME WIDE SEARCH

      European journal of human genetics
    38. LEES MM; HODGKINS P; REARDON W; TAYLOR D; STANHOPE R; JONES B; HAYWARD R; HOCKLEY AD; BARAITSER M; WINTER RM
      FRONTONASAL DYSPLASIA WITH OPTIC DISC ANOMALIES AND OTHER MIDLINE CRANIOFACIAL DEFECTS - A REPORT OF 6 CASES

      Clinical dysmorphology
    39. KANT SG; BARAITSER M; MILLA PJ; WINTER RM
      RAPADILINO-SYNDROME - A NON-FINNISH CASE

      Clinical dysmorphology
    40. AMIEL J; WATKIN PM; TASSABEHJI M; READ AP; WINTER RM
      MUTATION OF THE MITF GENE IN ALBINISM-DEAFNESS SYNDROME (TIETZ-SYNDROME)

      Clinical dysmorphology
    41. WINTER RM
      ANIMAL-MODELS FOR DYSMORPHOLOGY

      Current opinion in genetics & development
    42. FITZPATRICK DR; KEELING JW; EVANS MJ; KAN AE; BELL JE; PORTEOUS MEM; MILLS K; WINTER RM; CLAYTON PT
      CLINICAL PHENOTYPE OF DESMOSTEROLOSIS

      American journal of medical genetics
    43. RYAN AK; BARTLETT K; CLAYTON P; EATON S; MILLS L; DONNAI D; WINTER RM; BURN J
      SMITH-LEMLI-OPITZ-SYNDROME - A VARIABLE CLINICAL AND BIOCHEMICAL PHENOTYPE

      Journal of Medical Genetics
    44. VASSAL HB; MALONE M; PETROS AJ; WINTER RM
      FAMILIAL PERSISTENT PULMONARY-HYPERTENSION OF THE NEWBORN RESULTING FROM MISALIGNMENT OF THE PULMONARY VESSELS (CONGENITAL ALVEOLAR-CAPILLARY DYSPLASIA)

      Journal of Medical Genetics
    45. VANSTEENSEL MAM; WINTER RM
      INTERNET DATABASES FOR CLINICAL GENETICISTS - AN OVERVIEW

      Clinical genetics
    46. HODGKINS P; LEES M; LAWSON J; REARDON W; LEITCH J; THOROGOOD P; WINTER RM; TAYLOR DSI
      OPTIC DISC ANOMALIES AND FRONTONASAL DYSPLASIA

      British journal of ophthalmology
    47. WINTER RM
      CLERGY DISSENT IN THE OLD SOUTH, 1830-1865 - CHESEBROUGH,DB

      Journal of Presbyterian history
    48. WINTER RM
      THE CLASS OF 1912 - ADAMS,IB, ADAMS,T

      Journal of Presbyterian history
    49. PLENGE RM; HENDRICH BD; SCHWARTZ C; ARENA JF; NAUMOVA A; SAPIENZA C; WINTER RM; WILLARD HF
      A PROMOTER MUTATION IN THE XIST GENE IN 2 UNRELATED FAMILIES WITH SKEWED X-CHROMOSOME INACTIVATION

      Nature genetics
    50. FEATHER SA; WOOLF AS; DONNAI D; MALCOLM SM; WINTER RM
      ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTIC KIDNEY-DISEASE, MAPS TO XP22.2-XP22.3

      Journal of the American Society of Nephrology
    51. ROSE CSP; PATEL P; REARDON W; MALCOLM S; WINTER RM
      THE TWIST GENE, ALTHOUGH NOT DISRUPTED IN SAETHRE-CHOTZEN PATIENTS WITH APPARENTLY BALANCED TRANSLOCATIONS OF 7P21, IS MUTATED IN FAMILIAL AND SPORADIC CASES

      Human molecular genetics
    52. FEATHER SA; WOOLF AS; DONNAI D; MALCOLM S; WINTER RM
      THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTICKIDNEY-DISEASE AND ASSOCIATED MALFORMATIONS, MAPS TO XP22.2-XP22.3

      Human molecular genetics
    53. BARAITSER M; STEWART F; WINTER RM; HALL CM; HERMAN S; NEVIN NC
      A SYNDROME OF BRACHYPHALANGY, POLYDACTYLY AND ABSENT TIBIAE

      Clinical dysmorphology
    54. SLANEY SF; WINTER RM
      ANOTHER CASE OF THE AUTOSOMAL RECESSIVE WEAVER-LIKE SYNDROME

      American journal of medical genetics
    55. GOODMAN FR; MUNDLOS S; MURAGAKI Y; DONNAI D; GIOVANNUCCIUZIELLI ML; LAPI E; MAJEWSKI F; MCGAUGHRAN J; MCKEOWN C; REARDON W; UPTON J; WINTER RM; OLSEN BR; SCHAMBLER PJ
      SYNPOLYDACTYLY PHENOTYPES CORRELATE WITH SIZE OF EXPANSIONS IN HOXD13POLYALANINE TRACT

      Proceedings of the National Academy of Sciences of the United Statesof America
    56. REARDON W; WILKES D; RUTLAND P; PULLEYN LJ; MALCOLM S; DEAN JCS; EVANS RD; JONES BM; HAYWARD R; HALL CM; NEVIN NC; BARAITSER M; WINTER RM
      CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS

      Journal of Medical Genetics
    57. GILBERT HL; BUXTON JL; CHAN CTJ; MCKAY T; COTTRELL S; RAMSDEN S; WINTER RM; PEMBREY ME; MALCOLM S
      COUNSELING DILEMMAS ASSOCIATED WITH THE MOLECULAR CHARACTERIZATION OF2 ANGELMAN-SYNDROME FAMILIES

      Journal of Medical Genetics
    58. GAUSDEN E; COYLE B; ARMOUR JAL; COFFEY R; GROSSMAN A; FRASER GR; WINTER RM; PEMBREY ME; KENDALLTAYLOR P; STEPHENS D; LUXON LM; PHELPS PD; REARDON W; TREMBATH R
      PENDRED SYNDROME - EVIDENCE FOR GENETIC HOMOGENEITY AND FURTHER REFINEMENT OF LINKAGE

      Journal of Medical Genetics
    59. RYAN AK; GOODSHIP JA; WILSON DI; PHILIP N; LEVY A; SEIDEL H; SCHUFFENHAUER S; OECHSLER H; BELOHRADSKY B; PRIEUR M; AURIAS A; RAYMOND FL; CLAYTONSMITH J; HATCHWELL E; MCKEOWN C; BEEMER FA; DALLAPICCOLA B; NOVELLI G; HURST JA; IGNATIUS J; GREEN AJ; WINTER RM; BRUETON L; BRONDUMNIELSEN K; STEWART F; VANESSEN T; PATTON M; PATERSON J; SCAMBLER PJ
      SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY

      Journal of Medical Genetics
    60. GOODMAN F; GIOVANNUCCIUZIELLI ML; REARDON W; WINTER RM; SCAMBLER PJ
      NOVEL LIMB PHENOTYPE SEGREGATING WITH DELETIONS IN HOXD13

      Journal of Medical Genetics
    61. LEES M; PRESCOTT NJ; WINTER RM; MALCOLM S
      NO EVIDENCE OF LINKAGE BETWEEN MARKERS D19S178 AND BCL3 AND NON-SYNDROMIC CLEFT-LIP AND PALATE USING SIB-PAIR ANALYSIS

      Journal of Medical Genetics
    62. GOODMAN FR; GIOVANNUCCIUZIELLI ML; REARDON W; WINTER RM; SCAMBLER PJ
      A NOVEL INHERITED HUMAN LIMB MALFORMATION CAUSED BY DELETIONS IN HOXD13

      American journal of human genetics
    63. LEES M; PRESCOTT NJ; WINTER RM; MARS M; MALCOLM S
      A SIB-PAIR ANALYSIS OF NON-SYNDROMIC CLEFT-LIP AND PALATE

      American journal of human genetics
    64. MALCOLM S; FEATHER SA; WOOLF AS; DONNAI D; WINTER RM
      ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A MALE-LETHAL X-LINKED DISORDER, MAPS TO XP22.2-XP22.3

      American journal of human genetics
    65. LEITCH RJ; WINTER RM
      MIDLINE CRANIOFACIAL DEFECTS AND MORNING GLORY DISC ANOMALY - A DISTINCT CLINICAL ENTITY

      Acta ophthalmologica Scandinavica
    66. WINTER RM
      WHATS IN A FACE

      Nature genetics
    67. PULLEYN LJ; REARDON W; WILKES D; RUTLAND P; JONES BM; HAYWARD R; HALL CM; BRUETON L; CHUN N; LAMMER E; MALCOLM S; WINTER RM
      SPECTRUM OF CRANIOSYNOSTOSIS PHENOTYPES ASSOCIATED WITH NOVEL MUTATIONS AT THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 LOCUS

      European journal of human genetics
    68. WINTER RM; SHORTLAND D; COLLINS AL; HALL CM; TEMPLE IK
      EXTREME INTRAUTERINE GROWTH-RETARDATION, HYDROCEPHALUS AND AGED FACIAL APPEARANCE - A PREVIOUSLY UNRECOGNIZED AUTOSOMAL RECESSIVE DISORDER

      Clinical dysmorphology
    69. ROSSER EM; MANN NP; HALL CM; WINTER RM
      SERPENTINE FIBULA SYNDROME - EXPANSION OF THE PHENOTYPE WITH 3 AFFECTED SIBLINGS

      Clinical dysmorphology
    70. ELLIS IH; YALE C; THOMAS R; GARRETT C; WINTER RM
      3 SIBS WITH MICROCEPHALY, CONGENITAL HEART-DISEASE, LUNG SEGMENTATIONDEFECTS AND UNILATERAL ABSENT KIDNEY - A NEW RECESSIVE MULTIPLE CONGENITAL ANOMALY (MCA) SYNDROME

      Clinical dysmorphology
    71. BARNICOAT AJ; MOLLER HU; PALMER RW; RUSSELLEGGITT I; WINTER RM
      AN UNUSUAL PRESENTATION OF SMITH-MAGENIS SYNDROME WITH IRIS DYSGENESIS

      Clinical dysmorphology
    72. AURORA P; WALLIS CE; WINTER RM
      THE JARCHO-LEVIN SYNDROME (SPONDYLOCOSTAL DYSPLASIA) AND COMPLEX CONGENITAL HEART-DISEASE - A CASE-REPORT

      Clinical dysmorphology
    73. WINTER RM
      BAKER,DANIEL AND OLD SCHOOL REVIVALISM IN MISSISSIPPI

      American Presbyterians
    74. WINTER RM
      ANALYZING HUMAN DEVELOPMENTAL ABNORMALITIES

      BioEssays
    75. REARDON W; HARDING B; WINTER RM; BARAITSER M
      HEMIHYPERTROPHY, HEMIMEGALENCEPHALY, AND POLYDACTYLY

      American journal of medical genetics
    76. WINTER RM; REARDON W
      LUMPERS, SPLITTERS, AND FGFRS

      American journal of medical genetics
    77. WILKES D; RUTLAND P; PULLEYN LJ; REARDON W; MOSS C; ELLIS JP; WINTER RM; MALCOLM S
      A RECURRENT MUTATION, ALA391GLU, IN THE TRANSMEMBRANE REGION OF FGFR3CAUSES CROUZON SYNDROME AND ACANTHOSIS NIGRICANS

      Journal of Medical Genetics
    78. EVANS CD; SEARLE AG; SCHINZEL AA; WINTER RM
      THE DYSMORPHIC HUMAN-MOUSE HOMOLOGY DATABASE (DHMHD) - AN INTERACTIVEWORLD-WIDE-WEB RESOURCE FOR GENE-MAPPING

      Journal of Medical Genetics
    79. LEES MM; WINTER RM
      ADVANCES IN GENETICS

      Archives of Disease in Childhood
    80. REARDON W; WINTER RM
      THE MOLECULAR PATHOLOGY OF SYNDROMIC CRANIOSYNOSTOSIS

      Molecular medicine today
    81. FLINT J; WILKIE AOM; BUCKLE VJ; WINTER RM; HOLLAND AJ; MCDERMID HE
      THE DETECTION OF SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN IDIOPATHIC MENTAL-RETARDATION

      Nature genetics
    82. WILKIE AOM; SLANEY SF; OLDRIDGE M; POOLE MD; ASHWORTH GJ; HOCKLEY AD; HAYWARD RD; DAVID DJ; PULLEYN LJ; RUTLAND P; MALCOLM S; WINTER RM; REARDON W
      APERT SYNDROME RESULTS FROM LOCALIZED MUTATIONS OF FGFR2 AND IS ALLELIC WITH CROUZON SYNDROME

      Nature genetics
    83. RUTLAND P; PULLEYN LJ; REARDON W; BARAITSER M; HAYWARD R; JONES B; MALCOLM S; WINTER RM; OLDRIDGE M; SLANEY SF; POOLE MD; WILKIE AOM
      IDENTICAL MUTATIONS IN THE FGFR2 GENE CAUSE BOTH PFEIFFER AND CROUZONSYNDROME PHENOTYPES

      Nature genetics
    84. OLDRIDGE M; WILKIE AOM; SLANEY SF; POOLE MD; PULLEYN LJ; RUTLAND P; HOCKLEY AD; WAKE MJC; GOLDIN JH; WINTER RM; REARDON W; MALCOLM S
      MUTATIONS IN THE 3RD IMMUNOGLOBULIN DOMAIN OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE IN CROUZON SYNDROME

      Human molecular genetics
    85. WINTER RM
      RECENT MOLECULAR ADVANCES IN DYSMORPHOLOGY

      Human molecular genetics
    86. QIAN LL; BRUCE FA; KELLAR JJ; WINTER RM
      AN INSTRUMENT FOR TESTING INTERFACIAL SHEAR-STRENGTH IN POLYMER MATRIX COMPOSITES

      Measurement science & technology
    87. WENSEL RW; PENALOZA M; CROSS WM; WINTER RM; KELLAR JJ
      ADSORPTION BEHAVIOR OF OLEATE ON MG(OH)(2) AS REVEALED BY FT-IR SPECTROSCOPY

      Langmuir
    88. EVANS CD; WINTER RM
      A CASE-BASED LEARNING APPROACH, TO GROUPING CASES WITH MULTIPLE MALFORMATIONS

      M.D. computing
    89. ROSE CSP; KING AAJ; YANG S; WILKIE AOM; REARDON W; MALCOLM S; WINTER RM
      THE LOCALIZATION OF THE GENETIC-LOCUS OF THE SAETHRE-CHOTZEN SYNDROME

      Cytogenetics and cell genetics
    90. REARDON W; GIBBONS RJ; WINTER RM; BARAITSER M
      MALE PSEUDOHERMAPHRODITISM IN SIBS WITH THE ALPHA-THALASSEMIA MENTAL-RETARDATION (ATR-X) SYNDROME

      American journal of medical genetics
    91. ELMSLIE FV; VIVIAN AJ; GARDINER H; HALL C; MOWAT AP; WINTER RM
      ALAGILLE SYNDROME - FAMILY STUDIES

      Journal of Medical Genetics
    92. WILKIE AOM; YANG SP; SUMMERS D; POOLE MD; REARDON W; WINTER RM
      SAETHRE-CHOTZEN-SYNDROME ASSOCIATED WITH BALANCED TRANSLOCATIONS INVOLVING 7P21 - 3 FURTHER FAMILIES

      Journal of Medical Genetics
    93. ELMSLIE FV; VIVIAN AJ; BAKER A; MOWAT AP; WINTER RM
      ALAGILLE SYNDROME - IS THE FACE SPECIFIC

      Journal of Medical Genetics
    94. MUENKE M; SCHELL U; HEHR A; ROBIN NH; LOSKEN HW; SCHINZEL A; PULLEYN LJ; RUTLAND P; REARDON W; MALCOLM S; WINTER RM
      A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME

      Nature genetics
    95. REARDON W; WINTER RM; RUTLAND P; PULLEYN LJ; JONES BM; MALCOLM S
      MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME

      Nature genetics
    96. VITS L; VANCAMP G; COUCKE P; FRANSEN E; DEBOULLE K; REYNIERS E; KORN B; POUSTKA A; WILSON G; SCHRANDERSTUMPEL C; WINTER RM; SCHWARTZ C; WILLEMS PJ
      MASA SYNDROME IS DUE TO MUTATIONS IN THE NEURAL CELL-ADHESION GENE L1CAM

      Nature genetics
    97. ROSE CSP; KING AAJ; SUMMERS D; PALMER R; YANG S; WILKIE AOM; REARDON W; MALCOLM S; WINTER RM
      LOCALIZATION OF THE GENETIC-LOCUS FOR SAETHRE-CHOTZEN-SYNDROME TO A 6CM REGION OF CHROMOSOME-7 USING 4 CASES WITH APPARENTLY BALANCED TRANSLOCATIONS AT 7P21.2

      Human molecular genetics
    98. ROBIN NH; FELDMAN GJ; MITCHELL HF; LORENZ P; WILROY RS; ZACKAI EH; ALLANSON JE; REICH EW; PFEIFFER RA; CLARKE LA; WARMAN ML; MULLIKEN JB; BRUETON LA; WINTER RM; PRICE RA; GASSER DL; MUENKE M
      LINKAGE OF PFEIFFER-SYNDROME TO CHROMOSOME-8 CENTROMERE AND EVIDENCE FOR GENETIC-HETEROGENEITY

      Human molecular genetics
    99. ROSE CSP; VANHERWERDEN L; REARDON W; BRUETON LA; MALCOLM S; WINTER RM
      MAPPING OF SAETHRE-CHOTZEN SYNDROME (ACSIII) ON 7P

      Cytogenetics and cell genetics
    100. REARDON W; BOYD S; PITT MC; WILSON J; WINTER RM
      DISORDERED PERIPHERAL-NERVE CONDUCTION IN DOOR(S) SYNDROME

      Neuropediatrics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 02:00:12