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    1. Bliek, J; Maas, SM; Ruijter, JM; Hennekam, RCM; Alders, M; Westerveld, A; Mannens, MMAM
      Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

      HUMAN MOLECULAR GENETICS
    2. Hennekam, RCM; Waterham, HR; Wanders, RJA; Aronson, DC
      No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. van Haelst, MM; Hoogeboom, J; Galjaard, RJH; Kleijer, WJ; den Hollander, NS; de Krijger, RR; Hennekam, RCM; Niermeijer, MF
      Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Bellini, C; Bonioli, E; Josso, N; Belville, C; Mazzella, M; Costabel, S; Sementa, AR; Marino, CE; Toma, P; Hennekam, RCM; Serra, G
      Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Bongers, EMHF; Opitz, JM; Fryer, A; Sarda, P; Hennekam, RCM; Hall, BD; Superneau, DW; Harbison, M; Poss, A; van Bokhoven, H; Hamel, BCJ; Knoers, NVAM
      Meier-Gorlin syndrome: Report of eight additional cases and review

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

      LANCET
    7. 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
    8. Oosterhof, T; Groenink, M; Hulsmans, FJ; Mulder, BJM; van der Wall, EE; Smit, R; Hennekam, RCM
      Quantitative assessment of dural ectasia as a marker for Marfan syndrome

      RADIOLOGY
    9. Breugem, CC; van der Horst, CMAM; Hennekam, RCM
      Progress toward understanding vascular malformations

      PLASTIC AND RECONSTRUCTIVE SURGERY
    10. Bakker, B; Bikker, H; Hennekam, RCM; Lommen, EJP; Schipper, MGJ; Vulsma, T; de Vijlder, JJM
      Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    11. van Karnebeek, CDM; Naeff, MSJ; Mulder, BJM; Hennekam, RCM; Offringa, M
      Natural history of cardiovascular manifestations in Marfan syndrome

      ARCHIVES OF DISEASE IN CHILDHOOD
    12. Jira, PE; Wanders, RJA; Smeitink, JAM; De Jong, J; Wevers, RA; Oostheim, W; Tuerlings, JHAM; Hennekam, RCM; Sengers, RCA; Waterham, HR
      Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome

      ANNALS OF HUMAN GENETICS
    13. Waterham, HR; Koster, J; Romeijn, GJ; Hennekam, RCM; Vreken, P; Andersson, HC; FitzPatrick, DR; Kelley, RI; Wanders, RJA
      Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

      AMERICAN JOURNAL OF HUMAN GENETICS
    14. Ludecke, HJ; Schaper, J; Meinecke, P; Momeni, P; Gross, S; von Holtum, D; Hirche, H; Abramowicz, MJ; Albrecht, B; Apacik, C; Christen, HJ; Claussen, U; Devriendt, K; Fastnacht, E; Forderer, A; Friedrich, U; Goodship, THJ; Greiwe, M; Hamm, H; Hennekam, RCM; Hinkel, GK; Hoeltzenbein, M; Kayserili, H; Majewski, F; Mathieu, M; McLeod, R; Midro, AT; Moog, U; Nagai, T; Niikawa, N; Orstavik, KH; Plochl, E; Seitz, C; Schmidtke, J; Tranebjaerg, L; Tsukahara, M; Wittwer, B; Zabel, B; Gillessen-Kaesbach, G; Horsthemke, B
      Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. Ravazzolo, R; Cossu, G; Hennekam, RCM
      From developmental biology to dysmorphology

      EUROPEAN JOURNAL OF HUMAN GENETICS
    16. van den Berg, JSP; Hennekam, RCM; Cruysberg, JRM; Steijlen, PM; Swart, J; Tijmes, N; Limburg, M
      Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum

      CEREBROVASCULAR DISEASES
    17. Maas, SM; Hoovers, JMN; van Seggelen, ME; Menzel, DM; Hennekam, RCM
      Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

      CLINICAL DYSMORPHOLOGY
    18. Petrij, F; Dorsman, JC; Dauwerse, HG; Giles, RH; Peeters, T; Hennekam, RCM; Breuning, MH; Peters, DJM
      Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q38.3;p13.3)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Kelley, RI; Hennekam, RCM
      The Smith-Lemli-Opitz syndrome

      JOURNAL OF MEDICAL GENETICS
    20. Waterham, HR; Oostheim, W; Romeijn, GJ; Wanders, RJA; Hennekam, RCM
      Incidence and molecular mechanism of aberrant splicing owing to a G -> C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

      JOURNAL OF MEDICAL GENETICS
    21. Petrij, F; Dauwerse, HG; Blough, RI; Giles, RH; van der Smagt, JJ; Wallerstein, R; Maaswinkel-Mooy, PD; van Karnebeek, CD; van Ommen, GJB; van Haeringen, A; Rubinstein, JH; Saal, HM; Hennekam, RCM; Peters, DJM; Breuning, MH
      Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

      JOURNAL OF MEDICAL GENETICS
    22. van Genderen, MM; Kinds, GF; Riemslag, FCC; Hennekam, RCM
      Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patientsand review of the literature

      BRITISH JOURNAL OF OPHTHALMOLOGY
    23. Goodman, FR; Bacchelli, C; Brady, AF; Brueton, LA; Fryns, JP; Mortlock, DP; Innis, JW; Holmes, LB; Donnenfeld, AE; Feingold, M; Beemer, FA; Hennekam, RCM; Scambler, PJ
      Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. Celli, J; van Beusekom, E; Hennekam, RCM; Gallardo, ME; Smeets, DFCM; de Cordoba, SR; Innis, JW; Frydman, M; Konig, R; Kingston, H; Tolmie, J; Govaerts, LCP; van Bokhoven, H; Brunner, HG
      Familial syndromic esophageal atresia maps to 2p23-p24

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Groenink, M; Lohuis, TAJ; Tijssen, JGP; Naeff, MSJ; Hennekam, RCM; van der Wall, EE; Mulder, BJM
      Survival and complication free survival in Marfan's syndrome: implicationsof current guidelines

      HEART
    26. Bondurand, N; Kuhlbrodt, K; Pingault, V; Enderich, J; Sajus, M; Tommerup, N; Warburg, M; Hennekam, RCM; Read, AP; Wegner, M; Goossens, N
      A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies

      HUMAN MOLECULAR GENETICS
    27. Hennekam, RCM; Kwa, VIH; van Amerongen, A
      Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?

      CLINICAL DYSMORPHOLOGY
    28. Bohring, A; Lewin, SO; Reynolds, JF; Voigtlander, T; Rittinger, O; Carey, JC; Kopernik, M; Smith, R; Zackai, EH; Leonard, NJ; Gritter, HL; Bamforth, JS; Okun, N; McLeod, DR; Super, M; Powell, P; Mundlos, S; Hennekam, RCM; van Langen, IM; Viskochil, DH; Wiedemann, HR; Opitz, JM
      Polytopic anomalies with agenesis of the lower vertebral column

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. van Karnebeek, CDM; Hennekam, RCM
      Associations between chromosomal anomalies and congenital heart defects: Adatabase search

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Oostra, RJ; Baljet, B; Hennekam, RCM
      Reply to letter to the editor of Jean-Pierre Fryns - "On the nosology of severe acrofacial dysostosis with limb deficiency"

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. van Eeghen, AM; van Gelderen, I; Hennekam, RCM
      Costello syndrome: Report and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Celli, J; Duijf, P; Hamel, BCJ; Bamshad, M; Kramer, B; Smits, APT; Newbury-Ecob, R; Hennekam, RCM; Van Buggenhout, G; van Haeringen, B; Woods, CG; van Essen, AJ; de Waal, R; Vriend, G; Haber, DA; Yang, A; McKeon, F; Brunner, HG; van Bokhoven, H
      Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

      CELL
    33. van den Berg, JSP; Pals, G; Arwert, F; Hennekam, RCM; Albrecht, KW; Westerveld, A; Limburg, M
      Type III collagen deficiency in saccular intracranial aneurysms - Defect in gene regulation?

      STROKE
    34. Bijlsma, EK; Aalfs, CM; Sluijter, S; Luttikhuis, MEMO; Trembath, RC; Hoovers, JMN; Hennekam, RCM
      Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

      JOURNAL OF MEDICAL GENETICS
    35. Van den Berg, H; Hennekam, RCM
      Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome

      JOURNAL OF MEDICAL GENETICS
    36. Knight, SW; Heiss, NS; Vulliamy, TJ; Aalfs, CM; McMahon, C; Richmond, P; Jones, A; Hennekam, RCM; Poustka, A; Mason, PJ; Dokal, I
      Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

      BRITISH JOURNAL OF HAEMATOLOGY
    37. GROENINK M; ROZENDAAL L; NAEFF MSJ; HENNEKAM RCM; HART AAM; VANDERWALL EE; MULDER BJM
      MARFAN-SYNDROME IN CHILDREN AND ADOLESCENTS - PREDICTIVE AND PROGNOSTIC VALUE OF AORTIC ROOT-GROWTH FOR SCREENING FOR AORTIC COMPLICATIONS

      HEART
    38. ROZENDAAL L; GROENINK M; NAEFF MSJ; HENNEKAM RCM; HART AAM; VANDERWALL EE; MULDER BJM
      MARFAN-SYNDROME IN CHILDREN AND ADOLESCENTS - AN ADJUSTED NOMOGRAM FOR SCREENING AORTIC ROOT DILATATION

      HEART
    39. BROWN SA; WARBURTON D; BROWN LY; YU CY; ROEDER ER; STENGELRUTKOWSKI S; HENNEKAM RCM; MUENKE M
      HOLOPROSENCEPHALY DUE TO MUTATIONS IN ZIC2, A HOMOLOG OF DROSOPHILA ODD-PAIRED

      Nature genetics
    40. DEUTZTERLOUW PP; LOSEKOOT M; AALFS CM; HENNEKAM RCM; BAKKER E
      ASN540THR SUBSTITUTION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 TYROSINE KINASE DOMAIN CAUSING HYPOCHONDROPLASIA

      Human mutation
    41. HENNEKAM RCM; GOLDSCHMEDING R
      COMPLETE ABSENCE OF RIB OSSIFICATION, MICROGNATHIA AND EAR ANOMALIES - EXTREME EXPRESSION OF CEREBRO-COSTO-MANDIBULAR SYNDROME

      European journal of human genetics
    42. HOOVERS JMN; BIJLSMA EK; SLUIJTER S; HENNEKAM RCM
      SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS AS A CAUSE FOR MENTAL-RETARDATION

      European journal of human genetics
    43. SINKE R; VANDENBOOGAARD MJH; HENNEKAM RCM; DALLINGATHIE GM; BEEMER FA; PEARSON PL; VANAMSTEL JKP
      GENE LOCALIZATION IN A FAMILY WITH WILSON-TURNER-SYNDROME

      European journal of human genetics
    44. OOSTRA RJ; BALJET B; HENNEKAM RCM
      MALFORMATION SYNDROMES AND SKELETAL DYSPLASIAS IN THE MUSEUM VROLIK COLLECTION OF ANATOMICAL SPECIMENS IN AMSTERDAM, THE NETHERLANDS

      European journal of human genetics
    45. OOSTRA RJ; BALJET B; VERBEETEN BWJM; HENNEKAM RCM
      CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - III - PRIMARY FIELD DEFECTS, SEQUENCES, AND OTHER COMPLEX ANOMALIES

      American journal of medical genetics
    46. OOSTRA RJ; BALJET B; HENNEKAM RCM
      CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - IV - CLOSURE DEFECTS OF THE NEURAL-TUBE

      American journal of medical genetics
    47. OOSTRA RJ; BALJET B; VERBEETEN BWJM; HENNEKAM RCM
      CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - V - CONJOINED AND ACARDIAC TWINS

      American journal of medical genetics
    48. OOSTRA RJ; BALJET B; HENNEKAM RCM
      SEVERE ACROFACIAL DYSOSTOSIS WITH OROFACIAL CLEFTING AND TETRAPHOCOMELIA DIAGNOSED IN THE PLASTER CAST OF A 100-YEAR-OLD ANATOMICAL SPECIMEN

      American journal of medical genetics
    49. OOSTRA RJ; BALJET B; DIJKSTRA PF; HENNEKAM RCM
      CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - I - SYNDROMES WITH MULTIPLE CONGENITAL-ANOMALIES

      American journal of medical genetics
    50. OOSTRA RJ; BALJET B; DIJKSTRA PF; HENNEKAM RCM
      CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - II - SKELETAL DYSPLASIAS

      American journal of medical genetics
    51. LAAN LAEM; HALLEY DJJ; DENBOER AT; HENNEKAM RCM; RENIER WO; BROUWER OF
      ANGELMAN-SYNDROME WITHOUT DETECTABLE CHROMOSOME 15Q11-13 ANOMALY - CLINICAL-STUDY OF FAMILIAL AND ISOLATED CASES

      American journal of medical genetics
    52. VANBALKOM IDC; QUARTEL S; HENNEKAM RCM
      MENTAL-RETARDATION, COARSE FACE, AND HYPERBREATHING - CONFIRMATION OFTHE PITT-HOPKINS-SYNDROME

      American journal of medical genetics
    53. Groen, SE; Drewes, JG; de Boer, EG; Hoovers, JMN; Hennekam, RCM
      Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6

      AMERICAN JOURNAL OF MEDICAL GENETICS
    54. VANASPEREN CJ; OVERWEGPLANDSOEN WCG; CNOSSEN MH; VANTIJN DA; HENNEKAM RCM
      FAMILIAL NEUROFIBROMATOSIS TYPE-1 ASSOCIATED WITH AN OVERGROWTH SYNDROME RESEMBLING WEAVER-SYNDROME

      Journal of Medical Genetics
    55. RIDER LG; GURLEY RC; PANDEY JP; GARCIADELATORRE I; KALOVIDOURIS AE; OHANLON TP; LOVE LA; HENNEKAM RCM; BAUMBACH LL; NEVILLE HE; GARCIA CA; KLINGMAN J; GIBBS M; WEISMAN MH; TARGOFF IN; MILLER FW
      CLINICAL, SEROLOGIC, AND IMMUNOGENETIC FEATURES OF FAMILIAL IDIOPATHIC INFLAMMATORY MYOPATHY

      Arthritis and rheumatism
    56. WATERHAM HR; WIJBURG FA; HENNEKAM RCM; VREKEN P; POLLTHE BT; DORLAND L; DURAN M; JIRA PE; SMEITINK JAM; WEVERS RA; WANDERS RJA
      SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE

      American journal of human genetics
    57. OQUINN JR; HENNEKAM RCM; JORDE LB; BAMSHAD M
      SYNDROMIC ECTRODACTYLY WITH SEVERE LIMB, ECTODERMAL, UROGENITAL, AND PALATAL DEFECTS MAPS TO CHROMOSOME-19

      American journal of human genetics
    58. QUADERI NA; SCHWEIGER S; GAUDENZ K; FRANCO B; RUGARLI EI; BERGER W; FELDMAN GJ; VOLTA M; ANDOLFI G; GILGENKRANTZ S; MARION RW; HENNEKAM RCM; OPITZ JM; MUENKE M; ROPERS HH; BALLABIO A
      OPITZ G BBB SYNDROME, A DEFECT OF MIDLINE DEVELOPMENT, IS DUE TO MUTATIONS IN A NEW RING FINGER GENE ON XP22/

      Nature genetics
    59. CLAYTONSMITH J; KERR B; BRUNNER H; TRANEBJAERG L; MAGEE A; HENNEKAM RCM; MUELLER RF; BRUETON L; SUPER M; STEENJOHNSEN J; DONNAI D
      MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME

      Clinical dysmorphology
    60. AALFS CM; FANTES JA; WENNIGERPRICK LJJM; SLUIJTER S; HENNEKAM RCM; VANHEYNINGEN V; HOOVERS JMN
      TANDEM DUPLICATION OF 11P12-P13 IN A CHILD WITH BORDERLINE DEVELOPMENT DELAY AND EYE ABNORMALITIES - DOSE-EFFECT OF THE PAX6 GENE-PRODUCT

      American journal of medical genetics
    61. ALLANSON JE; HENNEKAM RCM
      RUBINSTEIN-TAYBI-SYNDROME - OBJECTIVE EVALUATION OF CRANIOFACIAL STRUCTURE

      American journal of medical genetics
    62. BAKKER HD; HENNEKAM RCM
      MACROCEPHALY, FACIAL ABNORMALITIES, DISPROPORTIONATE TALL STATURE, AND MENTAL-RETARDATION - A SIB OBSERVATION

      American journal of medical genetics
    63. OOSTRA RJ; BALJET B; SCHUTGENS RBH; HENNEKAM RCM
      SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED 130-YEAR-OLD ANATOMICAL SPECIMEN

      American journal of medical genetics
    64. WANDERS RJA; ROMEIJN GJ; WIJBURG F; HENNEKAM RCM; DEJONG J; WEVERS RA; DACREMONT G
      SMITH-LEMLI-OPITZ-SYNDROME - DEFICIENT DELTA(7)-REDUCTASE ACTIVITY INCULTURED SKIN FIBROBLASTS AND CHORIONIC VILLUS FIBROBLASTS AND ITS APPLICATION TO PRENATAL AND POSTNATAL DETECTION

      Journal of inherited metabolic disease
    65. VANDENBERG JSP; LIMBURG M; PALS G; ARWERT F; WESTERVELD A; HENNEKAM RCM; ALBRECHT KW
      SOME PATIENTS WITH INTRACRANIAL ANEURYSMS HAVE A REDUCED TYPE-III TYPE-I COLLAGEN RATIO - A CASE-CONTROL STUDY

      Neurology
    66. ALLANSON JE; HENNEKAM RCM; IRELAND M
      DE-LANGE-SYNDROME - SUBJECTIVE AND OBJECTIVE COMPARISON OF THE CLASSICAL AND MILD PHENOTYPES

      Journal of Medical Genetics
    67. DEPAEPE A; HENNEKAM RCM
      MARFAN-SYNDROME

      Journal of Medical Genetics
    68. OQUINN JR; HENNEKAM RCM; JORDE LB; BAMSHAD M
      SYNDROMIC ECTRODACTYLY WITH SEVERE LIMB, ECTODERMAL, UROGENITAL, AND PALATAL DEFECTS MAPS TO CHROMOSOME-19

      American journal of human genetics
    69. PUTNAM EA; PARK ES; AALFS CM; HENNEKAM RCM; MILEWICZ DM
      PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A FBN2 MUTATION AND ANALYSIS OF FBN2 TRANSCRIPT LEVELS IN DERMAL FIBROBLASTS

      American journal of human genetics
    70. GLADWIN AJ; DIXON J; LOFTUS SK; EDWARDS S; WASMUTH JJ; HENNEKAM RCM; DIXON MJ
      TREACHER-COLLINS-SYNDROME MAY RESULT FROM INSERTIONS, DELETIONS OR SPLICING MUTATIONS, WHICH INTRODUCE A TERMINATION CODON INTO THE GENE

      Human molecular genetics
    71. HENNEKAM RCM; VANDERHORST CMAM
      A BOY WITH A CLEFT-LIP AND PALATE, TRITUBERCULAR INCISORS, AND FINGERANOMALY

      Clinical dysmorphology
    72. AUSEMS MGEM; WITTEBOLPOST D; HENNEKAM RCM
      CLEFT-LIP AND CONE-ROD DYSTROPHY IN A CONSANGUINEOUS SIBSHIP

      Clinical dysmorphology
    73. AALFS CM; OOSTERWIJK JC; VANSCHOONEVELD MJ; BEGEMAN CJ; WABEKE KB; HENNEKAM RCM
      CATARACTS, RADICULOMEGALY, SEPTAL HEART-DEFECTS AND HEARING-LOSS IN 2UNRELATED ADULT FEMALES WITH NORMAL INTELLIGENCE AND SIMILAR FACIAL APPEARANCE - CONFIRMATION OF A SYNDROME

      Clinical dysmorphology
    74. BEUTEN J; HENNEKAM RCM; VANROY B; MANGELSCHOTS K; SUTCLIFFE JS; HALLEY DJJ; HENNEKAM FAM; BEAUDET AL; WILLEMS PJ
      ANGELMAN SYNDROME IN AN INBRED FAMILY

      Human genetics
    75. HENNEKAM RCM; VANBEVER Y; OORTHUYS JWE
      ACROMICRIC DYSPLASIA AND GELEOPHYSIC DYSPLASIA - SIMILARITIES AND DIFFERENCES

      European journal of pediatrics
    76. KROON AA; SMIT BJ; BARTH PG; HENNEKAM RCM
      LISSENCEPHALY WITH EXTREME CEREBRAL AND CEREBELLAR HYPOPLASIA - A MAGNETIC-RESONANCE-IMAGING STUDY

      Neuropediatrics
    77. KELLEY RI; ROESSLER E; HENNEKAM RCM; FELDMAN GI; KOSAKI K; JONES MC; PALUMBOS JC; MUENKE M
      HOLOPROSENCEPHALY IN RSH SMITH-LEMLI-OPITZ-SYNDROME - DOES ABNORMAL CHOLESTEROL-METABOLISM AFFECT THE FUNCTION OF SONIC-HEDGEHOG/

      American journal of medical genetics
    78. LAAN LAEM; DENBOER AT; HENNEKAM RCM; RENIER WO; BROUWER OF
      ANGELMAN SYNDROME IN ADULTHOOD

      American journal of medical genetics
    79. HENNEKAM RCM; GORLIN RJ
      CONFIRMATION OF THE YEMENITE (WARBURG) DEAF-BLIND HYPOPIGMENTATION SYNDROME

      American journal of medical genetics
    80. MAAS SM; DEJONG TPVM; BUSS P; HENNEKAM RCM
      EEC-SYNDROME AND GENITOURINARY ANOMALIES - AN UPDATE

      American journal of medical genetics
    81. DEPAEPE A; DEVEREUX RB; DIETZ HC; HENNEKAM RCM; PYERITZ RE
      REVISED DIAGNOSTIC-CRITERIA FOR THE MARFAN-SYNDROME

      American journal of medical genetics
    82. AALFS CM; VANSCHOONEVELD MJ; VANKEULEN EM; HENNEKAM RCM
      FURTHER DELINEATION OF THE ACRO-RENAL-OCULAR SYNDROME

      American journal of medical genetics
    83. VANDENBERG JSP; LIMBURG M; HENNEKAM RCM
      IS MARFAN-SYNDROME ASSOCIATED WITH SYMPTOMATIC INTRACRANIAL ANEURYSMS

      Stroke
    84. ISRAELS T; HOOVERS J; TURPIJN HM; WIJBURG FA; HENNEKAM RCM
      PARTIAL DELETION OF 18P AND PARTIAL DUPLICATION OF 18Q CAUSED BY A PATERNAL PERICENTRIC-INVERSION

      Clinical genetics
    85. AALFS CM; JACOBS ME; NIESTEOTTER MA; HENNEKAM RCM; HOOVERS JMN
      2 SUPERNUMERARY MARKER CHROMOSOMES, DERIVED FROM CHROMOSOME-6 AND CHROMOSOME-9, IN A BOY WITH MILD DEVELOPMENTAL DELAY

      Clinical genetics
    86. VANLANGEN IM; OTTER MA; ARONSON DC; OVERWEGPLANDSOEN WCG; HENNEKAM RCM; LESCHOT NJ; HOOVERS JMN
      SUPERNUMERARY RING CHROMOSOME-20 CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION

      Clinical genetics
    87. HENNEKAM RCM; COHEN MM
      HYPOTHESIS - PATIENT WITH POSSIBLE DISTURBANCE IN PROGRAMMED CELL-DEATH

      European journal of human genetics
    88. VANDENOUWELAND AMW; VANDEREST MN; WESBYVANSWAAY E; TIJMENSEN TSLN; LOS FJ; VANHEMEL JO; HENNEKAM RCM; MEIJERSHEIJBOER HJ; NIERMEIJER MF; HALLEY DJJ
      DNA DIAGNOSIS OF PRADER-WILLI AND ANGELMAN SYNDROMES WITH THE PROBE PW71 (D15S63)

      Human genetics
    89. AALFS CM; VANDENBERG H; BARTH PG; HENNEKAM RCM
      THE HOYERAAL-HREIDARSSON SYNDROME - THE 4TH CASE OF A SEPARATE ENTITYWITH PRENATAL GROWTH-RETARDATION, PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA

      European journal of pediatrics
    90. AALFS CM; VANDENBERG H; BARTH PG; HENNEKAM RCM
      THE HOYERAAL-HREIDARSSON SYNDROME - DONT FORGET THE ASSOCIATED IMMUNODEFICIENCY - REPLY

      European journal of pediatrics
    91. AALFS CM; HENNEKAM RCM
      DIFFERENCES BETWEEN THE HOYERAAL-HREIDARSSON SYNDROME AND AN AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

      American journal of medical genetics
    92. BUNTINX IM; HENNEKAM RCM; BROUWER OF; STROINK H; BEUTEN J; MANGELSCHOTS K; FRYNS JP
      CLINICAL PROFILE OF ANGELMAN SYNDROME AT DIFFERENT AGES

      American journal of medical genetics
    93. PETRIJ F; GILES RH; DAUWERSE HG; SARIS JJ; HENNEKAM RCM; MASUNO M; TOMMERUP N; VANOMMEN GJB; GOODMAN RH; PETERS DJM; BREUNING MH
      RUBINSTEIN-TAYBI SYNDROME CAUSED BY MUTATIONS IN THE TRANSCRIPTIONAL COACTIVATOR CBP

      Nature
    94. AALFS CM; HOOVERS JMN; NIESTEOTTER MA; MANNENS HMAM; HENNEKAM RCM; LESCHOT NJ
      FURTHER DELINEATION OF THE PARTIAL PROXIMAL TRISOMY 10Q SYNDROME

      Journal of Medical Genetics
    95. VANBEVER Y; HENNEKAM RCM
      HASPESLAGH SYNDROME WITHOUT SEVERE MENTAL-RETARDATION AND PTERYGIA

      Clinical genetics
    96. MUENKE M; GURRIERI F; YI D; BAY C; COLLINS AL; JOHNSON VP; HENNEKAM RCM; SCHAEFER GB; LUBINSKY MS; MOORE CA; DOBYNS WB; MURRAY JC; PRICE RA
      LINKAGE OF A GENE CAUSING FAMILIAL HOLOPROSENCEPHALY (HPE) TO CHROMOSOME 7Q36

      Cytogenetics and cell genetics
    97. AUSEMS MGEM; BHOLA SL; POSTBLOK CA; HENNEKAM RCM; DEFRANCE HF
      18Q- AND 18Q-RETARDED BOY( MOSAICISM IN A MENTALLY)

      American journal of medical genetics
    98. HENNEKAM RCM; HUBER J; VARIEND D
      BARTSOCAS-PAPAS SYNDROME WITH INTERNAL ANOMALIES - EVIDENCE FOR A MORE GENERALIZED EPITHELIAL DEFECT OR NEW SYNDROME

      American journal of medical genetics
    99. HENNEKAM RCM
      JOHNSON-MCMILLIN SYNDROME - REPORT OF ANOTHER FAMILY - REPLY

      American journal of medical genetics
    100. DEKNECHTVANEEKELEN A; HENNEKAM RCM
      HISTORICAL STUDY - DELANGE,CORNELIA,C. (1871-1950) - A PIONEER IN CLINICAL GENETICS

      American journal of medical genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 15:32:48