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    1. Smith, AC; Squire, JA; Thorner, P; Zielenska, M; Shuman, C; Grant, R; Chitayat, D; Nishikawa, JL; Weksberg, R
      Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    2. Osborne, LR; Li, M; Pober, B; Chitayat, D; Bodurtha, J; Mandel, A; Costa, T; Grebe, T; Cox, S; Tsui, LC; Scherer, SW
      A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

      NATURE GENETICS
    3. Sobacchi, C; Frattini, A; Orchard, P; Porras, O; Tezcan, I; Andolina, M; Babul-Hirji, R; Baric, I; Canham, N; Chitayat, D; Dupuis-Girod, S; Ellis, I; Etzioni, A; Fasth, A; Fisher, A; Gerritsen, B; Gulino, V; Horwitz, E; Klamroth, V; Lanino, E; Mirolo, M; Musio, A; Matthijs, G; Nonomaya, S; Notarangelo, LD; Ochs, HD; Furga, AS; Valiaho, J; van Hove, JLK; Vihinen, M; Vujic, D; Vezzoni, P; Villa, A
      The mutational spectrum of human malignant autosomal recessive osteopetrosis

      HUMAN MOLECULAR GENETICS
    4. Johnson, JM; Babul-Hirji, R; Chitayat, D
      First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    5. Li, M; Squire, J; Shuman, C; Fei, YL; Atkin, J; Pauli, R; Smith, A; Nishikawa, J; Chitayat, D; Weksberg, R
      Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations (vol 74, pg 370, 2001)

      GENOMICS
    6. Li, M; Squire, J; Shuman, C; Atkin, J; Pauli, R; Smith, A; Chitayat, D; Weksberg, R
      Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations

      GENOMICS
    7. Leung, WC; Chitayat, D; Seaward, G; Windrim, R; Ryan, G; Barrett, J; Winsor, EJT
      Role of amniotic fluid interphase fluorescence in situ hybridization (PISH) analysis in patient management

      PRENATAL DIAGNOSIS
    8. Dar, P; Javed, AA; Ben-Yishay, M; Ferreira, JC; Paterson, AD; Gross, SJ; Chitayat, D; Morrow, BE; Nitowsky, HM
      Potential mapping of corneal dermoids to Xq24-qter

      JOURNAL OF MEDICAL GENETICS
    9. van Bokhoven, H; Hamel, BCJ; Bamshad, M; Sangiorgi, E; Gurrieri, F; Duijf, PHG; Vanmolkot, KRJ; van Beusekom, E; van Beersum, SEC; Celli, J; Merkx, GFM; Tenconi, R; Fryns, JP; Verloes, A; Newbury-Ecob, RA; Raas-Rotschild, A; Majewski, F; Beemer, FA; Janecke, A; Chitayat, D; Crisponi, G; Kayserili, H; Yates, JRW; Neri, G; Brunner, HG
      p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Gedeon, AK; Tiller, GE; Le Merrer, M; Heuertz, S; Tranebjaerg, L; Chitayat, D; Robertson, S; Glass, IA; Savarirayan, R; Cole, WG; Rimoin, DL; Kousseff, BG; Ohashi, H; Zabel, B; Munnich, A; Gecz, J; Mulley, JC
      The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Chitayat, D; Babul-Hirji, R
      Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities

      CURRENT OPINION IN OBSTETRICS & GYNECOLOGY
    12. Vajsar, J; Ackerley, C; Chitayat, D; Becker, LE
      Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome

      PEDIATRIC NEUROLOGY
    13. Abdullah, MM; Lacro, RV; Smallhorn, J; Chitayat, D; van der Velde, ME; Yoo, SJ; Oman-Ganes, L; Hornberger, LK
      Fetal cardiac dextroposition in the absence of an intrathoracic mass: Signof significant right lung hypoplasia

      JOURNAL OF ULTRASOUND IN MEDICINE
    14. Kennedy, D; Silver, MM; Winsor, EJT; Toi, A; Provias, J; Macha, M; Precht, K; Ledbetter, DH; Chitayat, D
      Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. von Dadelszen, P; Chitayat, D; Winsor, EJT; Cohen, H; MacDonald, C; Taylor, G; Rose, T; Hornberger, LK
      De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Park-Wyllie, L; Mazzotta, P; Pastuszak, A; Moretti, ME; Beique, L; Hunnisett, L; Friesen, MH; Jacobson, S; Kasapinovic, S; Chang, D; Diav-Citrin, O; Chitayat, D; Nulman, I; Einarson, TR; Koren, G
      Birth defects after maternal exposure to corticosteroids: Prospective cohort study and meta-analysis of epidemiological studies

      TERATOLOGY
    17. Roifman, CM; Zhang, JY; Chitayat, D; Sharfe, N
      A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency

      BLOOD
    18. Roifman, CM; Zhang, JY; Chitayat, D; Sharfe, N
      A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency

      BLOOD
    19. Siu, S; Chitayat, D; Webb, G
      Pregnancy in women with congenital heart defects: what are the risks?

      HEART
    20. Choong, K; Freedman, MH; Chitayat, D; Kelly, EN; Taylor, G; Zipursky, A
      Juvenile myelomonocytic leukemia and Noonan syndrome

      JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
    21. Gong, YQ; Krakow, D; Marcelino, J; Wilkin, D; Chitayat, D; Babul-Hirji, R; Hudgins, L; Cremers, CW; Cremers, FPM; Brunner, HG; Reinker, K; Rimoin, DL; Cohn, DH; Goodman, FR; Reardon, W; Patton, M; Francomano, CA; Warman, ML
      Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

      NATURE GENETICS
    22. Zhou, G; Chen, YQ; Zhou, L; Thirunavukkarasu, K; Hecht, J; Chitayat, D; Gelb, BD; Pirinen, S; Berry, SA; Greenberg, CR; Karsenty, G; Lee, B
      CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia

      HUMAN MOLECULAR GENETICS
    23. Sgro, M; Barozzino, T; Toi, A; Johnson, J; Sermer, M; Chitayat, D
      Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    24. Cruickshanks, GF; Brown, S; Chitayat, D
      Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway

      CANADIAN JOURNAL OF ANAESTHESIA-JOURNAL CANADIEN D ANESTHESIE
    25. Friedman, S; Ford-Jones, LE; Toi, A; Ryan, G; Blaser, S; Chitayat, D
      Congenital toxoplasmosis: Prenatal diagnosis, treatment and postnatal outcome

      PRENATAL DIAGNOSIS
    26. Patel, MS; Callahan, JW; Zhang, SQ; Chan, AKJ; Unger, S; Levin, AV; Skomorowski, MA; Feigenbaum, AS; O'Brien, K; Hellman, J; Ryan, G; Velsher, L; Chitayat, D
      Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Chitayat, D; Fernandez, B; Gardner, A; Moore, L; Glance, P; Dunn, M; Chun, K; Sgro, M; Ray, P; Allingham-Hawkins, D
      Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: Prenatal diagnosis and postnatal outcome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Allingham-Hawkins, SJ; Babul-Hirji, R; Chitayat, D; Holden, JJA; Yang, KT; Lee, C; Hudson, R; Gorwill, H; Nolin, SL; Glicksman, A; Jenkins, EC; Brown, WT; Howard-Peebles, PN; Becchi, C; Cummings, E; Fallon, L; Seitz, S; Black, SH; Vianna-Morgante, AM; Costa, SS; Otto, PA; Mingroni-Netto, RC; Murray, A; Webb, J; MacSwinney, F; Dennis, N; Jacobs, PA; Syrrou, M; Georgiou, I; Patsalis, PC; Uzielli, MLG; Guarducci, S; Lapi, E; Cecconi, A; Ricci, U
      Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Chitayat, D; Chun, K
      Reply to the letter to the editor by Gripp et al. - "Not Antley-Bixler syndrome"

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Arab, S; Chitayat, D; Gardner, HA; Winsor, EJT
      Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22)

      CLINICAL GENETICS
    31. Gong, YQ; Chitayat, D; Kerr, B; Chen, TP; Babul-Hirji, R; Pal, A; Reiss, M; Warman, ML
      Brachydactyly type B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shaved ancestral mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    32. HUNG NA; SILVER MN; CHITAYAT D; PROVIAS J; TOI A; JAY V; BECKER LE
      GONADOBLASTOID TESTICULAR DYSPLASIA IN WALKER-WARBURG-SYNDROME

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    33. VITS L; CHITAYAT D; VANCAMP G; HOLDEN JJA; FRANSEN E; WILLEMS PJ
      EVIDENCE FOR SOMATIC AND GERMLINE MOSAICISM IN CRASH SYNDROME

      Human mutation
    34. RAHMANI R; DIXON M; CHITAYAT D; KORB E; SILVER M; BAROZZINO T; TOI A
      OTOCEPHALY - PRENATAL SONOGRAPHIC DIAGNOSIS

      Journal of ultrasound in medicine
    35. SGRO M; TOI A; AKOURI H; WILSON S; BAROZZINO T; YEO E; BLASER S; CHITAYAT D
      FETAL BILATERAL SUBDURAL HEMORRHAGES - PRENATAL-DIAGNOSIS AND SPONTANEOUS RESOLUTION BY TIME OF DELIVERY

      Prenatal diagnosis
    36. CHITAYAT D; GRISARUGRANOVSKY S; RYAN G; TOI A; FILLER R; SEAWARD GR; SIEGELBARTELT J; CYTRYNBAUM C
      FAMILIAL ILEAL PERFORATION - PRENATAL-DIAGNOSIS AND POSTNATAL FOLLOW-UP

      Prenatal diagnosis
    37. QUERCIA N; CHITAYAT D; BABULHIRJI R; NEW MI; DANEMAN D
      NORMAL EXTERNAL GENITALIA IN A FEMALE WITH CLASSICAL CONGENITAL ADRENAL-HYPERPLASIA WHO WAS NOT TREATED DURING EMBRYOGENESIS

      Prenatal diagnosis
    38. HAMILTON J; CHITAYAT D; BLASER S; COHEN LE; PHILLIPS JA; DANEMAN D
      FAMILIAL GROWTH-HORMONE DEFICIENCY ASSOCIATED WITH MRI ABNORMALITIES

      American journal of medical genetics
    39. HARRISON KJ; TESHIMA IE; SILVER MM; JAY V; UNGER S; ROBINSON WP; JAMES A; LEVIN A; CHITAYAT D
      PARTIAL TETRASOMY WITH TRIPLICATION OF CHROMOSOME (5) (P14-P15.33) INA PATIENT WITH SEVERE MULTIPLE CONGENITAL-ANOMALIES

      American journal of medical genetics
    40. PARK ES; PUTNAM EA; CHITAYAT D; CHILD A; MILEWICZ DM
      CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY INDICATES AN IMPORTANT ROLE OF THE DOMAINS ENCODED BY EXONS 24 THROUGH 34 DURING HUMAN-DEVELOPMENT

      American journal of medical genetics
    41. KENNEDY D; CHITAYAT D; WINSOR EJT; SILVER M; TOI A
      PRENATALLY DIAGNOSED NEURAL-TUBE DEFECTS - ULTRASOUND, CHROMOSOME, AND AUTOPSY OR POSTNATAL FINDINGS IN 212 CASES

      American journal of medical genetics
    42. CHUN K; SIEGELBARTELT J; CHITAYAT D; PHILLIPS J; RAY PN
      FGFR2 MUTATION ASSOCIATED WITH CLINICAL MANIFESTATIONS CONSISTENT WITH ANTLEY-BIXLER-SYNDROME

      American journal of medical genetics
    43. MACMILLAN C; KIRKHAM T; FU K; ALLISON V; ANDERMANN E; CHITAYAT D; FORTIER D; GANS M; HARE H; QUERCIA N; ZACKON D; SHOUBRIDGE EA
      PEDIGREE ANALYSIS OF FRENCH-CANADIAN FAMILIES WITH T14484C LEBERS HEREDITARY OPTIC NEUROPATHY

      Neurology
    44. VAJSAR J; CHITAYAT D; BECKER LE; HO M; BENZEEV B; JAY V
      SEVERE CLASSICAL CONGENITAL MUSCULAR-DYSTROPHY AND MEROSIN EXPRESSION

      Clinical genetics
    45. TOKA HR; BAHRING S; CHITAYAT D; MELBY JC; WHITEHEAD R; JESCHKE E; WIENKER TF; TOKA O; SCHUSTER H; LUFT FC
      FAMILIES WITH AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-E, SHORT STATURE,AND SEVERE HYPERTENSION

      Annals of internal medicine
    46. ZHANG YH; GUO WW; WAGNER RL; HUANG BL; MCCABE L; VILAIN E; BURRIS TP; ANYANEYEBOA K; BURGHES AHM; CHITAYAT D; CHUDLEY AE; GENEL M; GERTNER JM; KLINGENSMITH GJ; LEVINE SN; NAKAMOTO J; NEW MI; PAGON RA; PAPPAS LC; QUIGLEY CA; ROSENTHAL IM; BAXTER JD; FETTERICK RJ; MCCABE ERB
      DAX1 MUTATIONS MAP TO PUTATIVE STRUCTURAL DOMAINS IN A DEDUCED 3-DIMENSIONAL MODEL

      American journal of human genetics
    47. POLINKOVSKY A; ROBIN NH; THOMAS JT; IRONS M; LYNN A; GOODMAN FR; REARDON W; KANT SG; BRUNNER HG; VANDERBURGT I; CHITAYAT D; MCGAUGHRAN J; DONNAI D; LUYTEN FP; WARMAN ML
      MUTATIONS IN CDMP1 CAUSE AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-C

      Nature genetics
    48. SPRITZ RA; OH J; FUKAI K; HOLMES SA; HO LL; CHITAYAT D; FRANCE TD; MUSARELLA MA; ORLOW SJ; SCHNUR RE; WELEBER RG; LEVIN AV
      NOVEL MUTATIONS OF THE TYROSINASE (TYR) GENE IN TYPE-I OCULOCUTANEOUSALBINISM (OCA1)

      Human mutation
    49. SPRITZ RA; LEE ST; FUKAI K; BRONDUMNIELSEN K; CHITAYAT D; LIPSON MH; MUSARELLA MA; ROSENMANN A; WELEBER RG
      NOVEL MUTATIONS OF THE P-GENE IN TYPE-II OCULOCUTANEOUS ALBINISM (OCA2)

      Human mutation
    50. WINTER H; ROGERS MA; GEBHARDT M; WOLLINA U; BOXALL L; CHITAYAT D; BABULHIRJI R; STEVENS HP; ZLOTOGORSKI A; SCHWEIZER J
      A NEW MUTATION IN THE TYPE-II HAIR CORTEX KERATIN HHB1 INVOLVED IN THE INHERITED HAIR DISORDER MONILETHRIX

      Human genetics
    51. CHITAYAT D; GRIX A; BALFE JW; ABRAMOWICZ JS; GARZA J; FONG CT; SILVER MM; SALLER DN; BRESNICK GH; GIEDION A; LACHMAN RS; RIMOIN DL
      BRACHYDACTYLY SHORT STATURE HYPERTENSION (BILGINTURAN)-SYNDROME - REPORT ON 2 FAMILIES

      American journal of medical genetics
    52. ALGHAMDI MA; POLOMENO RC; CHITAYAT D; AZOUZ EM; TEEBI AS
      ARTHROGRYPOSIS MULTIPLEX CONGENITA, CRANIOFACIAL, AND OPHTHALMOLOGICAL ABNORMALITIES AND NORMAL INTELLIGENCE - A NEW SYNDROME

      American journal of medical genetics
    53. CHITAYAT D; TOI A; BABUL R; BLASER S; MOOLA S; YARKONI D; SERMER M; JOHNSON JA; VASJAR J; TESHIMA I
      OMPHALOCELE IN MILLER-DIEKER SYNDROME - EXPANDING THE PHENOTYPE

      American journal of medical genetics
    54. CHITAYAT D; SILVER MM; OBRIEN K; WYATT P; WAYE JS; CHIU DHK; BABUL R; THOMAS M
      LIMB DEFECTS IN HOMOZYGOUS ALPHA-THALASSEMIA - REPORT OF 3 CASES

      American journal of medical genetics
    55. NULMAN I; SCOLNIK D; CHITAYAT D; FARKAS LD; KOREN G
      FINDINGS IN CHILDREN EXPOSED IN-UTERO TO PHENYTOIN AND CARBAMAZEPINE MONOTHERAPY - INDEPENDENT EFFECTS OF EPILEPSY AND MEDICATIONS

      American journal of medical genetics
    56. SILVER MM; CHITAYAT D; TOI A; WINSOR EJT; RYAN G
      FETAL HYDROTHORAX (FHT) AS A DIRECT CAUSE OF HYDROPS-FETALIS - TENTATIVE AUTOPSY DIAGNOSIS

      Laboratory investigation
    57. LASKIN CA; CHITAYAT D; FARINE D; SPITZER K; SOLONINKA C; RYAN G; SEAWARD G; RITCHIE K; PEGRAM D
      MATERNAL SERUM SCREENING (MSS) ABNORMALITIES IN PREGNANT-WOMEN WITH SYSTEMIC LUPUS-ERYTHEMATOSUS

      Arthritis and rheumatism
    58. ROBIN NH; POLINKOVSKY A; GUNAYAYGUN M; THOMAS JT; IRONS M; LYNN A; GOODMAN FR; REARDON W; KANT SG; BRUNNER HG; VANDERBURGT I; CHITAYAT D; MORRISON S; LUYTEN FP; WARMAN ML
      BRACHYDACTYLY TYPE-C IS CAUSED BY MUTATIONS IN THE MORPHOGEN CDMP-1

      American journal of human genetics
    59. BABULHIRJI R; CHITAYAT D; VAJSAR J; BANWELL B
      FAMILIAL PROXIMAL SYMPHALANGISM WITH SEVERE MANIFESTATIONS IN MALES SUGGESTING X-LINKED DOMINANT INHERITANCE

      American journal of human genetics
    60. CHITAYAT D; WINSOR E; SINGER W; PAGE D
      XY GONADAL-DYSGENESIS IN 4 SISTERS WITH A CRYPTIC DELETION OF THE DISTAL SHORT ARM OF THE Y-CHROMOSOME INCLUDING THE SRY GENE

      American journal of human genetics
    61. FERNANDEZ B; TESHIMA I; JOHNSON A; MCDERMID H; CHITAYAT D
      FURTHER DELINEATION OF THE CHROMOSOME SEGMENT ASSOCIATED WITH BILIARYATRESIA IN CAT EYE SYNDROME (CES)

      American journal of human genetics
    62. BAROZZINO T; TOI A; JOHNSON J; RYAN G; MULLEN B; SILVER M; CHITAYAT D
      PRENATAL ULTRASONOGRAPHIC DIAGNOSIS OF CRANIOFACIAL TERATOMA

      American journal of human genetics
    63. CUSHING D; CHITAYAT D; SGRO M; BAROZZINO T; SILVER MM; TOI A
      CLUBFOOT ETIOLOGY AND OUTCOME - A STUDY OF 56 CASES DIAGNOSED PRENATALLY

      American journal of human genetics
    64. CUTIONGCO E; CHITAYAT D; TOI A; GEIST R; BARRETT J; CONACHER S; BAROZZINO T; CUSHING D; SGRO M; THOMAS M; SILVER MM; JOHNSON J
      MILD CEREBRAL VENTRICULOMEGALY - PRENATAL-DIAGNOSIS AND OUTCOME

      American journal of human genetics
    65. SGRO M; BAROZZINO T; TOI A; JOHNSON J; SERMER M; CHITAYAT D
      PRENATALLY DETECTED CENTRAL-NERVOUS-SYSTEM LESIONS IN FETUSES WITH TUBEROUS SCLEROSIS

      American journal of human genetics
    66. THOMAS M; TOI A; SILVER MM; JAY V; MOORE L; CHITAYAT D
      RENAL-HEPATIC PANCREATIC DYSPLASIA - PRENATAL-DIAGNOSIS AND FETOPATHOLOGICAL FINDINGS

      American journal of human genetics
    67. TOTOE L; CHITAYAT D; TOI A; SILVER M; AMANKWAH K; VELSHER L; BARRETT J
      AGENESIS OF THE CORPUS-CALLOSUM - PRENATAL-DIAGNOSIS AND OUTCOME

      American journal of human genetics
    68. CHUN K; SIEGELBARTELT J; CHITAYAT D; PHILLIPS J; RAY PN
      AN AUTOSOMAL-DOMINANT FORM OF ANTLEY-BIXLER-SYNDROME IS CAUSED BY A UNIQUE MUTATION IN FGFR2

      American journal of human genetics
    69. PUTNAM EA; PARK ES; CHILD A; CHITAYAT D; MILEWICZ DM
      CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY (CCA)

      American journal of human genetics
    70. BOERKOEL C; CHITAYAT D; MULLEN JBM; NAG S
      HYDRANENCEPHALY ASSOCIATED WITH ABSENCE OF THE INTERNAL CAROTIDS - A NEW CONDITION WITH X-LINKED OR AUTOSOMAL RECESSIVE INHERITANCE

      American journal of human genetics
    71. PAI A; CONACHER S; CHITAYAT D
      OUTCOME OF UNEXPLAINED HIGH AMNIOTIC-FLUID ALPHA-FETOPROTEIN

      American journal of human genetics
    72. QUERCIA N; CHITAYAT D; TOI A; SILVER M; SERMER M
      ACROFACIAL DYSOSTOSIS TYPE RODRIGUEZ - PRENATAL-DIAGNOSIS AND AUTOPSYFINDINGS

      American journal of human genetics
    73. MOORE L; TOI A; CHITAYAT D
      ABNORMALITIES OF THE INTRAABDOMINAL FETAL UMBILICAL VEIN - REPORTS OF4 CASES AND A REVIEW OF THE LITERATURE

      Ultrasound in obstetrics & gynecology
    74. TESHIMA I; CHADWICK D; CHITAYAT D; KOBAYASHI J; RAY P; SHUMAN C; SIEGELBARTELT J; STRASBERG P; WEKSBERG R
      FISH DETECTION OF CHROMOSOME-15 DELETIONS IN PRADER-WILLI AND ANGELMAN SYNDROMES (VOL 62, PG 216, 1996)

      American journal of medical genetics
    75. ALLINGHAMHAWKINS DJ; BROWN CA; BABUL R; CHITAYAT D; KREKEWICH K; HUMPHRIES T; RAY PN; TESHIMA IE
      TISSUE-SPECIFIC METHYLATION DIFFERENCES AND COGNITIVE FUNCTION IN FRAGILE-X PREMUTATION FEMALES

      American journal of medical genetics
    76. FEIGENBAUM A; CHITAYAT D; ROBINSON B; MACGREGOR D; MYINT T; ARBUS G; NOWACZYK MJM
      THE EXPANDING CLINICAL PHENOTYPE OF THE TRNA(LEU(UUR)) A-]G MUTATION AT NP-3243 OF MITOCHONDRIAL-DNA - DIABETIC EMBRYOPATHY ASSOCIATED WITHMITOCHONDRIAL CYTOPATHY

      American journal of medical genetics
    77. TESHIMA I; CHADWICK D; CHITAYAT D; KOBAYASHI J; RAY P; SHUMAN C; SIEGELBARTELT J; STRASBERG P; WEKSBERG R
      FISH DETECTION OF CHROMOSOME-15 DELETIONS IN PRADER-WILLI AND ANGELMAN SYNDROMES

      American journal of medical genetics
    78. CHITAYAT D; BABUL R; SILVER MM; JAY V; TESHIMA IE; BABYN P; BECKER LE
      TERMINAL DELETION OF THE LONG ARM OF CHROMOSOME-3 [46,XX,DEL(3) (Q27-]QTER)]

      American journal of medical genetics
    79. ELIOPOULOS C; KLEIN J; CHITAYAT D; GREENWALD M; KOREN G
      NICOTINE AND COTININE IN MATERNAL AND NEONATAL HAIR AS MARKERS OF GESTATIONAL SMOKING

      Clinical and investigative medicine
    80. SILVEIRA I; LOPESCENDES I; KISH S; MACIEL P; GASPAR C; COUTINHO P; BOTEZ MI; TEIVE H; ARRUDA W; STEINER CE; PINTOJUNIOR W; MACIEL JA; JAIN S; SACK G; ANDERMANN E; SUDARSKY L; ROSENBERG R; MACLEOD P; CHITAYAT D; BABUL R; SEQUEIROS J; ROULEAU GA
      FREQUENCY OF SPINOCEREBELLAR ATAXIA TYPE-1, DENTATORUBROPALLIDOLUYSIAN ATROPHY, AND MACHADO-JOSEPH DISEASE MUTATIONS IN A LARGE GROUP OF SPINOCEREBELLAR ATAXIA PATIENTS

      Neurology
    81. BERNARD LE; CHITAYAT D; WEKSBERG R; VANALLEN MI; LANGLOIS S
      LINKAGE ANALYSIS OF 2 CANADIAN FAMILIES SEGREGATING FOR X-LINKED SPONDYLOEPIPHYSEAL DYSPLASIA

      Journal of Medical Genetics
    82. LOPESCENDES I; SILVEIRA I; MACIEL P; GASPER C; RADVANY J; CHITAYAT D; BABUL R; STEWART J; DOLLIVER M; ROBITAILLE Y; ROULEAU GA; SEQUEIROS J
      LIMITS OF CLINICAL-ASSESSMENT IN THE ACCURATE DIAGNOSIS OF MACHADO-JOSEPH-DISEASE

      Archives of neurology
    83. SULISALO T; VANDERBURGT I; RIMOIN DL; BONAVENTURE J; SILLENCE D; CAMPBELL JB; CHITAYAT D; SCOTT CI; DELACHAPELLE A; SISTONEN P; KAITILA I
      GENETIC HOMOGENEITY OF CARTILAGE HAIR HYPOPLASIA

      Human genetics
    84. BARRET J; CHITAYAT D; SERMER M; AMANKWAH K; MORROW R; TOI A; RYAN G
      THE PROGNOSTIC FACTORS IN THE PRENATAL-DIAGNOSIS OF THE ECHOGENIC FETAL LUNG

      Prenatal diagnosis
    85. CHITAYAT D; TOI A; BABUL R; LEVIN A; MICHAUD J; SUMMERS A; RUTKA J; BLASER S; BECKER LE
      PRENATAL-DIAGNOSIS OF RETINAL NONATTACHMENT IN THE WALKER-WARBURG SYNDROME

      American journal of medical genetics
    86. CHITAYAT D; HODGKINSON K; LUKE A; WINSOR E; ROSE T; KALOUSEK D
      PRENATAL-DIAGNOSIS AND FETOPATHOLOGICAL FINDINGS IN 5 FETUSES WITH TRISOMY-9

      American journal of medical genetics
    87. CHITAYAT D; RUVALCABA RHA; BABUL R; TESHIMA IE; POSNICK JC; VEKEMANS MJJ; SCARPELLI H; THULINE H
      SYNDROME OF PROXIMAL INTERSTITIAL DELETION 4P15 - REPORT OF 3 CASES AND REVIEW OF THE LITERATURE

      American journal of medical genetics
    88. CHITAYAT D; OHEL G; MARION R; EINARSON TR
      SPECTROPHOTOMETRY OF AMNIOTIC-FLUID - A SIMPLE AND RAPID METHOD FOR DISTINGUISHING BETWEEN GESTATIONAL SACS IN 2ND-TRIMESTER AMNIOCENTESIS OF TWIN PREGNANCIES

      Obstetrics and gynecology
    89. BABUL R; CHITAYAT D; SILVER M; GONCALVES S; RASAIAH B
      SELF-MUTILATION IN THE SMITH-LEMLI-OPITZ SYNDROME - THE EFFECT OF ABNORMAL CHOLESTEROL-METABOLISM ON THE BRAIN

      American journal of human genetics
    90. SILVER M; NOWACZYK M; CHITAYAT D; JAY V; TOI A; LEHOTEY D; SOLOMON L; THOMAS M
      CONGENITAL NEPHROTIC SYNDROME AND BRAIN DYSGENESIS - A NEW SYNDROME

      American journal of human genetics
    91. CHITAYAT D; MOOLS S; TOI A; CONACHER S; STRASBERG P; BARLEVI F; SERMER M; FARRELL S; CYTRYNBAUM C; SIEGELBARTELT J; VANALLEN M
      FETAL MECONIUM PERITONITIS - ETIOLOGY AND PROGNOSIS

      American journal of human genetics
    92. OHELL G; CHITAYAT D; CAMPBELL J; ALLEN L; SOLOMON L; THOMAS M; CONACHER S; FARRELL S; SUMMERS A; SERMER M
      UNEXPLAINED POSITIVE MSS FOR DOWN-SYNDROME AND OPEN SPINA-BIFIDA AS AN INDICATOR FOR ADVERSE PREGNANCY OUTCOME

      American journal of human genetics
    93. STRASBERG P; CHITAYAT D; MOOLA S; TOI A; SERMER M; GARDNER A; FARRELL S; SUMMER A; THOMAS M; RAY R; VANALLEN M
      FETAL ECHOGENIC BOWEL - ETIOLOGY, SIGNIFICANCE AND OUTCOME

      American journal of human genetics
    94. TOI A; CHITAYAT D; BLASER S; SERMER M; MOOLA S; JOHNSON J; SOLOMON L; TESHIMA J
      OMPHALOCELE - A PRENATALLY DETECTABLE ABNORMALITY IN MILLER-DIEKER SYNDROME

      American journal of human genetics
    95. ALGHAMDI MA; POLOMENO R; CHITAYAT D; AZOUZ M; TEEBI AS
      PENA-SHOKEIR PHENOTYPE WITH NORMAL INTELLIGENCE

      American journal of human genetics
    96. MOOLA S; TOI A; CHITAYAT D; TERESPOLSKY D; JOHNSON J; THOMAS M; CUSHING D; SERMER M
      PRENATAL-DIAGNOSIS OF THE HOLT-ORAM SYNDROME

      American journal of human genetics
    97. BROWN S; RUSSO J; CHITAYAT D; WARBURTON D
      THE 13Q(-) SYNDROME - THE MOLECULAR DEFINITION OF A CRITICAL DELETIONREGION IN BAND 13Q32

      American journal of human genetics
    98. HAIN RDW; CHITAYAT D; COOPER R; BANDLER E; ENG B; CHUI DHK; WAYE JS; FREEDMAN MH
      HB FM-FORT RIPLEY - CONFIRMATION OF AUTOSOMAL-DOMINANT INHERITANCE AND DIAGNOSIS BY PCR AND DIRECT NUCLEOTIDE SEQUENCING

      Human mutation
    99. MA YH; LIU MS; CHITAYAT D; BRUIN T; BEISIEGEL U; BENLIAN P; FOUBERT L; DEGENNES JL; FUNKE H; FORSYTHE I; BLAICHMAN S; PAPANIKOLAOU M; ERKELENS DW; KASTELEIN J; BRUNZELL JD; HAYDEN MR
      RECURRENT MISSENSE MUTATIONS AT THE FIRST AND 2ND BASE OF CODON ARG(243) IN HUMAN LIPOPROTEIN-LIPASE IN PATIENTS OF DIFFERENT ANCESTRIES

      Human mutation
    100. TIZZANO EF; OBRODOVICH H; CHITAYAT D; BENICHOU JC; BUCHWALD M
      REGIONAL EXPRESSION OF CFTR IN DEVELOPING HUMAN RESPIRATORY TISSUES

      American journal of respiratory cell and molecular biology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/10/20 alle ore 13:06:51