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    1. Lukusa, T; Willekens, D; Lukusa, N; De Cock, P; Fryns, JP
      Terminal 6q25.3 deletion and abnormal behaviour

      GENETIC COUNSELING
    2. Barajas-Barjas, LO; Velarde-Felix, S; Elizarraras-Rivas, J; Hernandez-Zaragoza, G; Vazquez-Herrera, JA
      De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma ofiris

      GENETIC COUNSELING
    3. McCallion, AS; Chakravarti, A
      EDNRB/EDN3 and Hirschsprung disease Type II

      PIGMENT CELL RESEARCH
    4. Naulaers, G; Devriendt, K; Moerman, P; Gillis, P; Vanhole, C; Devlieger, H
      Aneurysm of the ductus arteriosus in a neonate with 13q-deletion

      AMERICAN JOURNAL OF PERINATOLOGY
    5. Liburd, N; Ghosh, M; Riazuddin, S; Naz, S; Khan, S; Ahmed, Z; Riazuddin, S; Liang, Y; Menon, PSN; Smith, T; Smith, ACM; Chen, KS; Lupski, JR; Wilcox, ER; Potocki, L; Friedman, TB
      Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

      HUMAN GENETICS
    6. Jain, R; Jones, C
      Hydrops fetalis in an interstitial deletion of chromosome 10

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Walsh, LE; Vance, GH; Weaver, DD
      Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Schafer, IA; Robin, NH; Posch, JJ; Clark, BA; Izumo, S; Schwartz, S
      Distal 5q deletion syndrome: Phenotypic correlations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Riegel, M; Morava, E; Czako, M; Kosztolanyi, G; Schinzel, A
      Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Shanske, A; Ferreira, JC; Leonard, JC; Fuller, P; Marion, RW
      Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. Williams, CA; Lossie, A; Driscoll, D
      Angelman syndrome: Mimicking conditions and phenotypes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Wuyts, W; Van Hul, W; Bartsch, O; Wilkie, AOM; Meinecke, P
      Burning down DEFECT11

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. Shaffer, LG
      Reply to the letter to the editor by Wuyts et al. - "Burning down DEFECT11"

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Tonnies, H; Schulze, I; Hennies, HC; Neumann, LM; Keitzer, R; Neitzel, H
      De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

      JOURNAL OF MEDICAL GENETICS
    15. Tobias, ES; Bryce, G; Farmer, G; Barton, J; Colgan, J; Morrison, N; Cooke, A; Tolmie, JL
      Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

      JOURNAL OF MEDICAL GENETICS
    16. Sumption, ND; Barber, JCK
      A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

      JOURNAL OF MEDICAL GENETICS
    17. McEntagart, M; Carey, A; Breen, C; McQuaid, S; Stallings, RL; Green, AJ; King, MD
      Molecular characterisation of a proximal chromosome 18q deletion

      JOURNAL OF MEDICAL GENETICS
    18. Flintoff, KJ; Sheridan, E; Turner, G; Chu, CE; Taylor, GR
      Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

      JOURNAL OF MEDICAL GENETICS
    19. Schacht, V; Borelli, S; Tsambaos, D; Spycher, MA; Trueb, RM
      The trichorhinophalangeal syndrome. Case report and biophysical analysis of the hair shaft parameters

      HAUTARZT
    20. Hall, CR; Wu, Y; Shaffer, LG; Hecht, JT
      Familial case of Potocki-Shaffer syndrome associated with microdeletion ofEXT2 and ALX4

      CLINICAL GENETICS
    21. Seidel, J; Schiller, S; Kelbova, C; Beensen, V; Orth, U; Vogt, S; Claussen, U; Zintl, F; Rappold, GA
      Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation

      CLINICAL GENETICS
    22. Tackels-Horne, D; Toburen, A; Sangiorgi, E; Gurrieri, F; de Mollerat, X; Fischetto, R; Causio, F; Clarkson, K; Stevenson, RE; Schwartz, CE
      Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21

      CLINICAL GENETICS
    23. Raedle, JC; Friedl, W; Engels, H; Koenig, R; Trojan, J; Zeuzem, S
      A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation

      AMERICAN JOURNAL OF GASTROENTEROLOGY
    24. Ostrer, H
      Sexual differentiation

      SEMINARS IN REPRODUCTIVE MEDICINE
    25. Amendt, BA; Semina, EV; Alward, WLM
      Rieger syndrome: a clinical, molecular, and biochemical analysis

      CELLULAR AND MOLECULAR LIFE SCIENCES
    26. Kurotobi, S; Kado, Y; Miki, K; Hara, T; Nakanishi, K; Taniguchi, M; Shin, K; Honda, A; Matsuoka, T; Nagai, T
      Deletion of the long arm of chromosome 2 (2q22-q24.2): Case report and review of the literature

      PEDIATRICS INTERNATIONAL
    27. Wieczorek, D; Krause, M; Majewski, F; Albrecht, B; Horn, D; Riess, O; Gillessen-Kaesbach, G
      Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

      EUROPEAN JOURNAL OF HUMAN GENETICS
    28. Spruijt, L; Van der Blij-Philipsen, M; Engelen, JJM; Schrander-Stumpel, CTRM
      An adult patient with a distal interstitial 14q deletion: Clinical report and literature review

      GENETIC COUNSELING
    29. Thomas, DG; Jacques, SM; Flore, LA; Feldman, B; Evans, MI; Qureshi, F
      Prenatal diagnosis of Smith-Magenis syndrome (del 17p11.2)

      FETAL DIAGNOSIS AND THERAPY
    30. Ferrero, E; Saccucci, F; Malavasi, F
      The making of a leukocyte receptor: Origin, genes and regulation of human CD38 and related molecules

      HUMAN CD38 AND RELATED MOLECULES
    31. 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
    32. Valioulis, I; Aubert, D; de Billy, B; Bawab, F; Karam, R
      A complex chromosomal rearrangement associated with Hirschsprung's disease- A case report with a review of the literature

      EUROPEAN JOURNAL OF PEDIATRIC SURGERY
    33. Kamei, Y; Takeda, Y; Teramoto, K; Tsutsumi, O; Taketani, Y; Watanabe, K
      Human NB-2 of the contactin subgroup molecules: Chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members

      GENOMICS
    34. De Baere, E; Fukushima, Y; Small, K; Udar, N; Van Camp, G; Verhoeven, K; Palotie, A; De Paepe, A; Messiaen, L
      Identification of BPESC1, a novel gene disrupted by a balanced chromosomaltranslocation, t(3;4)(q23;p15.2), in a patient with BPES

      GENOMICS
    35. Marszal, E; Jamroz, E; Pilch, J; Kluczewska, E; Jablecka-Deja, H; Krawczyk, R
      Agenesis of corpus callosum: Clinical description and etiology

      JOURNAL OF CHILD NEUROLOGY
    36. Morioka, D; Hosaka, Y
      Aesthetic and plastic surgery for trichorhinophalangeal syndrome

      AESTHETIC PLASTIC SURGERY
    37. Van Hemel, JO; Eussen, HJ
      Interchromosomal insertions - Identification of five cases and a review

      HUMAN GENETICS
    38. Hand, JL; Michels, VV; Marinello, MJ; Ketterling, RP; Jalal, SM
      Inherited interstitial deletion of chromosomes 5p and 16q without apparentphenotypic effect: further confirmation

      PRENATAL DIAGNOSIS
    39. Jakubiczka, S; Mitulla, B; Liehr, T; Arnemann, J; Lehrach, H; Sudbrak, R; Stumm, M; Wieacker, PF; Bettecken, T
      Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing

      PRENATAL DIAGNOSIS
    40. Baralle, D; Willatt, LR; Shears, DJ
      Leri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling

      AMERICAN JOURNAL OF MEDICAL GENETICS
    41. Kramer, BW; Martin, T; Henn, W; Lal, S; Speer, CP
      Lung hypoplasia in a patient with del(2)(q33-q35) demonstrated by chromosome microdissection

      AMERICAN JOURNAL OF MEDICAL GENETICS
    42. Barbi, G; Kennerknecht, I; Wohr, G; Avramopoulos, D; Karadima, G; Petersen, MB
      Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    43. Camassei, FD; Jenkner, A; Bertini, E; Bosman, C; Donfrancesco, A; Boldrini, R
      Pierre Robin syndrome and Wilms tumor: An unusual association

      MEDICAL AND PEDIATRIC ONCOLOGY
    44. Thiel, M; Behrend, C; Feldkamp, A
      Unusual manifestation of an interstitial deletion 4q-: 12-21 [del(4)(q12q21)]. Case report and comparison of literature regarding phenotype and genotype

      MONATSSCHRIFT KINDERHEILKUNDE
    45. Johnson, EI; Marinescu, RC; Punnett, HH; Tenenholz, B; Overhauser, J
      5p14 deletion associated with microcephaly and seizures

      JOURNAL OF MEDICAL GENETICS
    46. Hastings, RJ; Svennevik, EC; Setterfield, B; Wells, D; Delhanty, JDA; Mackinnon, H
      Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father

      JOURNAL OF MEDICAL GENETICS
    47. Lichtner, P; Konig, R; Hasegawa, T; Van Esch, H; Meitinger, T; Schuffenhauer, S
      An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus mapsdistal to the DiGeorge syndrome region on 10p13/14

      JOURNAL OF MEDICAL GENETICS
    48. Koorey, D; Basha, NJ; Tomaras, C; Freiman, J; Robson, L; Smith, A
      Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1)

      JOURNAL OF MEDICAL GENETICS
    49. Morle, L; Bozon, M; Zech, JC; Alloisio, N; Raas-Rothschild, A; Philippe, C; Lambert, JC; Godet, J; Plauchu, H; Edery, P
      A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15

      AMERICAN JOURNAL OF HUMAN GENETICS
    50. Wu, YQ; Badano, JL; McCaskill, C; Vogel, H; Potocki, L; Shaffer, LG
      Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    51. Fukami, M; Kirsch, S; Schiller, S; Richter, A; Benes, V; Franco, B; Muroya, K; Rao, E; Merker, S; Niesler, B; Ballabio, A; Ansorge, W; Ogata, T; Rappold, GA
      A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

      AMERICAN JOURNAL OF HUMAN GENETICS
    52. Aladhami, SMS; Gould, CP; Muhammad, FA
      A new inherited interstitial deletion of the distal long arm of chromosome4,{del(4)(q32 q33)}

      HUMAN HEREDITY
    53. Walkey, CJ; Shields, DJ; Vance, DE
      Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
    54. Sirko-Osadsa, DA; Cassidy, SB; Depinet, TW; Robin, NH; Limwongse, C; Schwartz, S
      Molecular refinement of karyotype: Beyond the cytogenetic band

      GENETICS IN MEDICINE
    55. Grimbacher, B; Dutra, AS; Holland, SM; Fischer, RE; Pao, M; Gallin, JI; Puck, JM
      Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation

      GENETICS IN MEDICINE
    56. Scheurlen, WG; Schwabe, GC; Seranski, P; Joos, S; Harbott, J; Metzke, S; Dohner, H; Poustka, A; Wilgenbus, K; Haas, OA
      Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)

      GENES CHROMOSOMES & CANCER
    57. De Rosa, M; Scarano, MI; Panariello, L; Carlomagno, N; Rossi, GB; Tempesta, A; Borgheresi, P; Renda, A; Izzo, P
      Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    58. Wuyts, W; Di Gennaro, G; Bianco, F; Wauters, J; Morocutti, C; Pierelli, F; Bossuyt, P; Van Hul, W; Casali, C
      Molecular and clinical examination of an Italian DEFECT 11 family

      EUROPEAN JOURNAL OF HUMAN GENETICS
    59. Francke, U
      Williams-Beuren syndrome: genes and mechanisms

      HUMAN MOLECULAR GENETICS
    60. Koivisto, PA; Koivisto, H; Haapala, K; Simola, KOJ
      A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect

      CLINICAL DYSMORPHOLOGY
    61. Yan, CM; Mok, KM
      Increased nuchal fold and proximal deletion of long arm of chromosome 7

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    62. De Baere, E; Van Roy, N; Speleman, F; Fukushima, Y; De Paepe, A; Messiaen, L
      Closing in an the BPES gene on 3q23: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta '-COP, distal to the breakpoint

      GENOMICS
    63. Seranski, P; Heiss, NS; Dhorne-Pollet, S; Radelof, U; Korn, B; Hennig, S; Backes, E; Schmidt, S; Wiemann, S; Schwarz, CE; Lehrach, H; Poustka, A
      Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: Identification of 53 transcriptional units and new candidate genes

      GENOMICS
    64. Patmasiriwat, P; Fraizer, G; Kantarjian, H; Saunders, GF
      WT1 and GATA1 expression in myelodysplastic syndrome and acute leukemia

      LEUKEMIA
    65. Yin, L; Ferrand, V; Lavoue, MF; Hayoz, D; Philippe, N; Souillet, G; Seri, M; Giacchino, R; Castagnola, E; Hodgson, S; Sylla, BS; Romeo, G
      SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients

      HUMAN GENETICS
    66. Tharapel, AT; Michaelis, RC; Velagaleti, GVN; Laundon, CH; Martens, PR; Buchanan, PD; Teague, KE; Tharapel, SA; Wilroy, RS
      Chromosome duplications and deletions and their mechanisms of origin

      CYTOGENETICS AND CELL GENETICS
    67. Yamamoto, K; Hamaguchi, H; Kobayashi, M; Tsurukubo, Y; Nagata, K
      Terminal deletion of the long arm of chromosome 9 in acute promyelocytic leukemia with a cryptic PML/RAR alpha rearrangement

      CANCER GENETICS AND CYTOGENETICS
    68. Lacbawan, FL; White, BJ; Anguiano, A; Rigdon, DT; Ball, KD; Bromage, GB; Yang, XJ; DiFazio, MP; Levin, SW
      Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin

      AMERICAN JOURNAL OF MEDICAL GENETICS
    69. Kozma, C; Chong, SS; Meck, JM
      Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    70. Pilarski, RT; Brothman, AR; Benn, P; Rosengren, SS
      Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q

      AMERICAN JOURNAL OF MEDICAL GENETICS
    71. Gibbons, B; Tan, SY; Kee, SK; Quaife, R; Lim, ST
      Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5) (p23;q33q35)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    72. Waggoner, DJ; Chow, CK; Dowton, SB; Watson, MS
      Partial monosomy of distal 10q: Three new cases and a review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    73. Huie, ML; Kasper, JS; Arn, PH; Greenberg, CR; Hirschhorn, R
      Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence ofintragenic mutations including a novel nonsense mutation Gln58Stop

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Olney, PN; Kean, LS; Graham, D; Elsas, LJ; May, KM
      Campomelic syndrome and deletion of SOX9

      AMERICAN JOURNAL OF MEDICAL GENETICS
    75. Spranger, S; Schiller, S; Jauch, A; Wolff, K; Rauterberg-Ruland, I; Hager, D; Tariverdian, G; Troger, J; Rappold, G
      Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

      AMERICAN JOURNAL OF MEDICAL GENETICS
    76. Tsai, CH; Van Dyke, DL; Feldman, GL
      Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    77. Kramer, RL; Feldman, B; Ebrahim, SAD; Kasperski, SB; Johnson, MP; Evans, MI
      Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: Case report

      AMERICAN JOURNAL OF MEDICAL GENETICS
    78. Morioka, D; Suse, T; Shimizu, Y; Ohkubo, F; Hosaka, Y
      Langer-Giedion syndrome associated with submucous cleft palate

      PLASTIC AND RECONSTRUCTIVE SURGERY
    79. Sweeney, E; Peart, I; Tofeig, M; Kerr, B
      Smith-Magenis syndrome and tetralogy of Fallot

      JOURNAL OF MEDICAL GENETICS
    80. Wu, YQ; Nickerson, E; Shaffer, LG; Keppler-Noreuil, K; Muilenburg, A
      A case of Williams syndrome with a large, visible cytogenetic deletion

      JOURNAL OF MEDICAL GENETICS
    81. Cook, L; Weaver, DD; Hartsfield, JK; Vance, GH
      De novo 10q22 interstitial deletion

      JOURNAL OF MEDICAL GENETICS
    82. Lauritsen, M; Mors, O; Mortensen, PB; Ewald, H
      Infantile autism and associated autosomal chromosome abnormalities: A register-based study and a literature survey

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    83. Liu, J; Zabarovska, VI; Braga, E; Alimov, A; Klein, G; Zabarovsky, ER
      Loss of heterozygosity in tumor cells requires re-evaluation: the data arebiased by the size-dependent differential sensitivity of allele detection

      FEBS LETTERS
    84. Marinescu, RC; Johnson, EI; Grady, D; Chen, XN; Overhauser, J
      FISH analysis of terminal deletions in patients diagnosed with cri-du-chatsyndrome

      CLINICAL GENETICS
    85. Sertie, AL; Sousa, AV; Steman, S; Pavanello, RC; Passos-Bueno, MR
      Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1

      AMERICAN JOURNAL OF HUMAN GENETICS
    86. THOMSON P
      WOLF-HIRSCHHORN-SYNDROME - REVIEW OF THE LITERATURE AND 3 CASE-STUDIES

      Journal of the American Podiatric Medical Association
    87. MIZUGISHI K; YAMANAKA K; KUWAJIMA K; KONDO I
      INTERSTITIAL DELETION OF CHROMOSOME 7Q IN A PATIENT WITH WILLIAMS-SYNDROME AND INFANTILE SPASMS

      JOURNAL OF HUMAN GENETICS
    88. BOY R; PIMENTEL MMG; HEMERLY P; SILVA MDS; BARREIRO AP; DEALMEIDA JCC; LLERENA J
      CHROMOSOME 6Q DELETION - REPORT OF A NEW CASE AND REVIEW OF THE LITERATURE

      GENETICS AND MOLECULAR BIOLOGY
    89. Dykens, EM; Smith, ACM
      Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    90. SEMINA EV; ALTHERR MR; MURRAY JC
      CLONING AND CHROMOSOMAL LOCALIZATION OF 2 NOVEL HUMAN GENES ENCODING LIM-DOMAIN BINDING-FACTORS CLIM1 AND CLIM2 LDB1/NLI/

      Mammalian genome
    91. ORIMO A; INOUE S; IKEDA K; SATO M; KATO A; TOMINAGA N; SUZUKI M; NODA T; WATANABE M; MURAMATSU M
      MOLECULAR-CLONING, LOCALIZATION, AND DEVELOPMENTAL EXPRESSION OF MOUSE-BRAIN FINGER PROTEIN (BFP) ZNF179 - DISTRIBUTION OF BFP MESSENGER-RNA PARTIALLY COINCIDES WITH THE AFFECTED AREAS OF SMITH-MAGENIS-SYNDROME/

      Genomics (San Diego, Calif.)
    92. TOOMES C; DIXON MJ
      REFINEMENT OF A TRANSLOCATION BREAKPOINT ASSOCIATED WITH BLEPHAROPHIMOSIS-PTOSIS EPICANTHUS INVERSUS SYNDROME TO A 280-KB INTERVAL AT CHROMOSOME 3Q23

      Genomics (San Diego, Calif.)
    93. KUMAR A; BECKER LA; DEPINET TW; HAREN JM; KURTZ CL; ROBIN NH; CASSIDY SB; WOLFF DJ; SCHWARTZ S
      MOLECULAR CHARACTERIZATION AND DELINEATION OF SUBTLE DELETIONS IN DE-NOVO BALANCED CHROMOSOMAL REARRANGEMENTS

      Human genetics
    94. MONIER K; MICHALET X; LAMARTINE J; SCHURRA C; HEITZMANN F; YIN L; CINTI R; SYLLA BS; CREAVEN M; PORTA G; VOURCH C; ROBERTNICOUD M; BENSIMON A; ROMEO G
      HIGH-RESOLUTION MAPPING OF THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME REGION BY FISH ON COMBED DNA

      Cytogenetics and cell genetics
    95. CHEN CP; CHERN SR; LEE CC; CHEN LF; CHUANG CY
      PRENATAL-DIAGNOSIS OF DE-NOVO INTERSTITIAL 16Q DELETION IN A FETUS ASSOCIATED WITH SONOGRAPHIC FINDINGS OF PROMINENT CORONAL SUTURES, A PROMINENT FRONTAL BONE, AND SHORTENING OF THE LONG BONES

      Prenatal diagnosis
    96. Chen, CP; Lee, CC; Pan, CW; Kir, TY; Chen, BF
      Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis

      PRENATAL DIAGNOSIS
    97. COSTA T; PASHBY R; HUGGINS M; TESHIMA IE
      DELETION 3Q IN 2 PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME (BPES)

      Journal of pediatric ophthalmology and strabismus
    98. GILLBERG C
      CHROMOSOMAL DISORDERS AND AUTISM

      Journal of autism and developmental disorders
    99. SMITH ACM; DYKENS E; GREENBERG F
      BEHAVIORAL-PHENOTYPE OF SMITH-MAGENIS-SYNDROME (DEL 17P11.2)

      American journal of medical genetics
    100. SMITH ACM; DYKENS E; GREENBERG F
      SLEEP DISTURBANCE IN SMITH-MAGENIS-SYNDROME (DEL-17-P11.2)

      American journal of medical genetics


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Documento generato il 20/10/20 alle ore 08:46:21