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    1. Njajou, OT; Vaessen, N; Joosse, M; Berghuis, B; van Dongen, JWF; Breuning, MH; Snijders, PJLM; Rutten, WPF; Sandkuijl, LA; Oostra, BA; van Duijn, CM; Heutink, P
      A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

      NATURE GENETICS
    2. Peters, DJM; Breuning, MH
      Autosomal dominant polycystic kidney disease: modification of disease progression

      LANCET
    3. Oberstein, SAJL; van den Boom, R; van Buchem, MA; van Houwelingen, HC; Bakker, E; Vollebregt, E; Ferrari, MD; Breuning, MH; Haan, J
      Cerebral microbleeds in CADASIL

      NEUROLOGY
    4. Wagner, A; Hendriks, Y; Meijers-Heijboer, EJ; de Leeuw, WJF; Morreau, H; Hofstra, R; Tops, C; Bik, E; Brocker-Vriends, AHJT; van der Meer, C; Lindhout, D; Vasen, HFA; Breuning, MH; Cornelisse, CJ; van Krimpen, C; Niermeijer, MF; Zwinderman, AH; Wijnen, J; Fodde, R
      Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree

      JOURNAL OF MEDICAL GENETICS
    5. Pirc-Danoewinata, H; Dauwerse, HG; Konig, M; Chudoba, I; Mitterbauer, M; Jager, U; Breuning, MH; Haas, OA
      CBFB/MYHII fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16

      GENES CHROMOSOMES & CANCER
    6. Mitchison, HM; Bernard, DJ; Greene, NDE; Cooper, JD; Junaid, MA; Pullarkat, RK; de Vos, N; Breuning, MH; Owens, JW; Mobley, WC; Gardiner, RM; Lake, BD; Taschner, PEM; Nussbaum, RL
      Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999)

      NEUROBIOLOGY OF DISEASE
    7. Scheffers, MS; van der Bent, P; Prins, F; Spruit, L; Breuning, MH; Litvinov, SV; de Heer, E; Peters, DJM
      Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells

      HUMAN MOLECULAR GENETICS
    8. van Dijk, MA; Breuning, MH; Peters, DJM; Chang, PC
      The ACE insertion/deletion polymorphism has no influence on progression ofrenal function loss in autosomal dominant polycystic kidney disease

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    9. Bezrookove, V; Hansson, K; van der Burg, M; van der Smagt, JJ; Hilhorst-Hofstee, Y; Wiegant, J; Beverstock, GC; Raap, AK; Tanke, H; Breuning, MH; Rosenberg, C
      Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH

      HUMAN GENETICS
    10. Takahashi, M; Rapley, E; Biggs, PJ; Lakhani, SR; Cooke, D; Hansen, J; Blair, E; Hofmann, B; Siebert, R; Turner, G; Evans, DG; Schrander-Stumpel, C; Beemer, FA; van Vloten, WA; Breuning, MH; van den Ouweland, A; Halley, D; Delpech, B; Cleveland, M; Leigh, I; Chapman, P; Burn, J; Hohl, D; Gorog, JP; Seal, S; Mangion, J; Warren, W; Bignell, G; Stratton, MR
      Linkage and LOH studies in 19 cylindromatosis families show no evidence ofgenetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13

      HUMAN GENETICS
    11. van der Smagt, JJ; Beverstock, GC; Breuning, MH; Kanhai, HHH; Vandenbussche, FPHA
      Assessment of prenatal karyotypes

      HUMAN REPRODUCTION
    12. Breuning, MH; Oranje, AP; Langemeijer, RATM; Hovius, SER; Diepstraten, AFM; den Hollander, JC; Baumgartner, N; Dwek, JR; Sommer, A; Toriello, H
      Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. 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
    14. Hateboer, N; Veldhuisen, B; Peters, D; Breuning, MH; San-Millan, JL; Bogdanova, N; Coto, E; von Dijk, MA; Afzal, AR; Jeffery, S; Saggar-Malik, AK; Torra, R; Dimitrakov, D; Martinez, I; de Castro, SS; Krawczak, M; Ravine, D
      Location of mutations within the PKD2 gene influences clinical outcome

      KIDNEY INTERNATIONAL
    15. 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
    16. Greene, NDE; Bernard, DL; Taschner, PEM; Lake, BD; de Vos, N; Breuning, MH; Gardiner, RM; Mole, SE; Nussbaum, RL; Mitchison, HM
      A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999)

      MOLECULAR GENETICS AND METABOLISM
    17. Greene, NDE; Bernard, DL; Taschner, PEM; Lake, BD; de Vos, N; Breuning, MH; Gardiner, RM; Mole, SE; Nussbaum, RL; Mitchison, HM
      A murine model for juvenile NCL: Gene targeting of mouse Cln3

      MOLECULAR GENETICS AND METABOLISM
    18. Taschner, PEM; Franken, PF; van Berkel, L; Breuning, MH
      Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands

      MOLECULAR GENETICS AND METABOLISM
    19. van Dijk, MA; Peters, DJM; Breuning, MH; Chang, PC
      The angiotensin-converting enzyme genotype and microalbuminuria in autosomal dominant polycystic kidney disease

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    20. Reynolds, DM; Hayashi, T; Cai, YQ; Veldhuisen, B; Watnick, TJ; Lens, XM; Mochizuki, T; Qian, F; Maeda, Y; Li, L; Fossdal, R; Coto, E; Wu, GQ; Breuning, MH; Germino, GG; Peters, DJM; Somlo, S
      Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    21. Veldhuisen, B; Spruit, L; Dauwerse, HG; Breuning, MH; Peters, DJM
      Genes homologous to the autosomal dominant polycystic kidney disease genes(PKD1 and PKD2)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    22. Mitchison, HM; Bernard, DJ; Greene, NDE; Cooper, JD; Junaid, MA; Pullarkat, RK; de Vos, N; Breuning, MH; Owens, JW; Mobley, WC; Gardiner, RM; Lake, BD; Taschner, PEM; Nussbaum, RL
      Targeted disruption of the Cln3 gene provides a mouse model for Batten disease

      NEUROBIOLOGY OF DISEASE
    23. van der Reijden, BA; Dauwerse, HG; Giles, RH; Jagmohan-Changur, S; Wijmenga, C; Liu, PP; Smit, B; Wessels, HW; Beverstock, GC; Jotterand-Bellomo, M; Martinet, D; Muhlematter, D; Lafage-Pochitaloff, M; Gabert, J; Reiffers, J; Bilhou-Nabera, C; van Ommen, GJB; Hagemeijer, A; Breuning, MH
      Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered

      ONCOGENE
    24. de Vries, BBA; Kleijer, WJ; Keulemans, JLM; Voznyi, YV; Franken, PF; Eurlings, MCM; Galjaard, RJ; Losekoot, M; Catsman-Berrevoets, CE; Breuning, MH; Taschner, PEM; van Diggelen, OP
      First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

      PRENATAL DIAGNOSIS
    25. Van der Loop, FTL; Monnens, LAH; Schroder, CH; Lemmink, HH; Breuning, MH; Timmer, EDJ; Smeets, HJM
      Identification of COL4 A5 defects in Alport's syndrome by immunohistochemistry of skin (vol 55, pg 1217, 1999)

      KIDNEY INTERNATIONAL
    26. van der Loop, FTL; Monnens, LAH; Schroder, CH; Lemmink, HH; Breuning, MH; Timmer, EDJ; Smeets, HJM
      Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin

      KIDNEY INTERNATIONAL
    27. Oberstein, SAJL; Ferrari, MD; Bakker, E; van Gestel, J; Kneppers, ALJ; Frants, RR; Breuning, MH; Haan, J
      Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients

      NEUROLOGY
    28. Peters, DJM; Van de Wal, A; Spruit, L; Saris, JJ; Breuning, MH; Bruijn, JA; De Heer, E
      Cellular localization and tissue distribution of polycystin-1

      JOURNAL OF PATHOLOGY
    29. Brooks, AS; Breuning, MH; Osinga, J; Van der Smagt, JJ; Catsman, CE; Buys, CHCM; Meijers, C; Hofstra, RMW
      A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

      JOURNAL OF MEDICAL GENETICS
    30. Dauwerse, HG; Smit, EME; Giles, RH; Slater, R; Breuning, MH; Hagemijer, A; van der Reijden, BA
      Two-colour FISH detection of the inv(16) in interphase nuclei of patients with acute myeloid leukaemia

      BRITISH JOURNAL OF HAEMATOLOGY
    31. de Vries, E; Noordzij, JG; Davies, EG; Hartwig, N; Breuning, MH; van Dongen, JJM; van Tol, MJD
      The 782C -> T (T254M) XHIM mutation: Lack of a tight phenotype-genotype relationship

      BLOOD
    32. Kohlhase, J; Taschner, PEM; Burfeind, P; Pasche, B; Newman, B; Blanck, C; Breuning, MH; ten Kate, LP; Maaswinkel-Mooy, P; Mitulla, B; Seidel, J; Kirkpatrick, SJ; Pauli, RM; Wargowski, DS; Devriendt, K; Proesmans, W; Gabrielli, O; Coppa, GV; Wesby-van Swaay, E; Trembath, RC; Schinzel, AA; Reardon, W; Seemanova, E; Engel, W
      Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    33. Mole, SE; Breuning, MH; Ceccherini, I; Harris, PC; Lushnikova, T
      Physical mapping of the short arm of human chromosome 16

      HUMAN GENOME ANALYSIS
    34. GILES RH; PETERS DJM; BREUNING MH
      CONJUNCTION DYSFUNCTION - CBP P300 IN HUMAN-DISEASE/

      Trends in genetics
    35. TAINE L; GOIZET C; WEN ZQ; PETRIJ F; BREUNING MH; AYME S; SAURA R; ARVEILER B; LACOMBE D
      SUBMICROSCOPIC DELETION OF CHROMOSOME 16P13.3 IN PATIENTS WITH RUBINSTEIN-TAYBI-SYNDROME

      American journal of medical genetics
    36. GILES RH; DAUWERSE JG; VANDERREIJDEN BA; BREUNING MH
      DETECTION OF CBP AND MOZ REARRANGEMENTS IN ACUTE MYELOID-LEUKEMIA WITH T(8-16)

      British Journal of Haematology
    37. GILES RH; DAUWERSE HG; VANOMMEN GJB; BREUNING MH
      DO HUMAN CHROMOSOMAL BANDS 16P13 AND 22Q11-13 SHARE ANCESTRAL ORIGINS

      American journal of human genetics
    38. RAO E; WEISS B; FUKAMI M; RUMP A; NIESLER B; MERTZ A; MUROYA K; BINDER G; KIRSCH S; WINKELMANN M; NORDSIEK G; HEINRICH U; BREUNING MH; RANKE MB; ROSENTHAL A; OGATA T; RAPPOLD GA
      PSEUDOAUTOSOMAL DELETIONS ENCOMPASSING A NOVEL HOMEOBOX GENE CAUSE GROWTH FAILURE IN IDIOPATHIC SHORT STATURE AND TURNER-SYNDROME

      Nature genetics
    39. CNOSSEN MH; VANDEREST MN; BREUNING MH; VANASPEREN CJ; BRESLAUSIDERIUS EJ; VANDERPLOEG AT; DEGOEDEBOLDER A; VANDENOUWELAND AMW; HALLEY DJJ; NIERMEIJER MF
      DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - IMPLICATIONS FOR GENOTYPE-PHENOTYPE CORRELATION IN NEUROFIBROMATOSIS TYPE-1

      Human mutation
    40. DROZ D; CHAUVEAU D; PETERS DJ; JOLY D; ADAFER E; BREUNING MH; GRUNFELD JP
      POLYCYSTIN EXPRESSION IN DIVERSE RENAL CYSTIC DISEASES

      Journal of the American Society of Nephrology
    41. PETERS DJM; SARIS JJ; SPRUIT L; SOMLO S; BRUIJN JA; BREUNING MH; DEHEER E
      CELLULAR-LOCALIZATION OF POLYCYSTIN-1 AND POLYCYSTIN-2

      Journal of the American Society of Nephrology
    42. VANDIJK MA; BREUNING MH; VOOGD PJ; PETERS DJM; CHANG PC
      THE ACE I D GENOTYPE AND CLINICAL VARIABILITY IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE/

      Journal of the American Society of Nephrology
    43. ODERMATT A; TASCHNER PEM; SCHERER SW; BEATTY B; KHANNA VK; CORNBLATH DR; CHAUDHRY V; YEE WC; SCHRANK B; KARPATI G; BREUNING MH; KNOERS N; MACLENNAN DH
      CHARACTERIZATION OF THE GENE ENCODING HUMAN SARCOLIPIN (SLN), A PROTEOLIPID ASSOCIATED WITH SERCA1 - ABSENCE OF STRUCTURAL MUTATIONS IN 5 PATIENTS WITH BRODY-DISEASE

      Genomics
    44. GILES RH; PETRIJ F; DAUWERSE HG; DENHOLLANDER AI; LUSHNIKOVA T; VANOMMEN GJB; GOODMAN RH; DEAVEN LL; DOGGETT NA; PETERS DJM; BREUNING MH
      CONSTRUCTION OF A 1.2-MB CONTIG SURROUNDING, AND MOLECULAR ANALYSIS OF, THE HUMAN CREB-BINDING PROTEIN (CBP CREBBP) GENE ON CHROMOSOME 16P13.3/

      Genomics
    45. MITCHISON HM; MUNROE PB; ORAWE AM; TASCHNER PEM; DEVOS N; KREMMIDIOTIS G; LENSINK I; MUNK AC; DARIGO KL; ANDERSON JW; LERNER TJ; MOYZIS RK; CALLEN DF; BREUNING MH; DOGGETT NA; GARDINER RM; MOLE SE
      GENOMIC STRUCTURE AND COMPLETE NUCLEOTIDE-SEQUENCE OF THE BATTEN-DISEASE GENE, CLN3

      Genomics
    46. GILES RH; DAUWERSE JG; HIGGINS C; PETRIJ F; WESSELS JW; BEVERSTOCK GC; DOHNER H; JOTTERANDBELLOMO M; FALKENBURG JHF; SLATER RM; VANOMMEN GJB; HAGEMEIJER A; VANDERREIJDEN BA; BREUNING MH
      DETECTION OF CBP REARRANGEMENTS IN ACUTE MYELOGENOUS LEUKEMIA WITH T(8-16)

      Leukemia
    47. PIRSON Y; CHAUVEAU D; WATSON ML; ZEIER M; BREUNING MH
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISE ASE

      MS. Medecine sciences
    48. TASCHNER PEM; DEVOS N; BREUNING MH
      CROSS-SPECIES HOMOLOGY OF THE CLN3 GENE

      Neuropediatrics
    49. PETERS DJM; ROELFSEMA J; SPRUIT L; DEHEER E; BRUIJN JA; BREUNING MH
      THE POLYCYSTIC-KIDNEY-DISEASE-1 GENE - MUTATION DETECTION AND IMMUNOHISTOCHEMICAL ANALYSIS OF THE GENE-PRODUCT POLYCYSTINE

      Kidney international
    50. TASCHNER PEM; DEVOS N; BREUNING MH
      RAPID DETECTION OF THE MAJOR DELETION IN THE BATTEN-DISEASE GENE CLN3BY ALLELE-SPECIFIC PCR

      Journal of Medical Genetics
    51. MOERLAND E; BREUNING MH; CORNELISSE CJ; CLETONJANSEN AM
      EXCLUSION OF BBC1 AND CMAR AS CANDIDATE BREAST TUMOR-SUPPRESSOR GENES

      British Journal of Cancer
    52. ROELFSEMA JH; SPRUIT L; SARIS JJ; CHANG P; PIRSON Y; VANOMMEN GJB; PETERS DJM; BREUNING MH
      MUTATION DETECTION IN THE REPEATED PART OF THE PKD1 GENE

      American journal of human genetics
    53. RAPPOLD GA; WEISS B; FUKAMI M; RUMP A; NIESLER B; MERTZ A; MUROYA K; BINDER G; KIRSCH S; WINKELMANN M; NORDSIEK G; HEINRICH U; BREUNING MH; RANKE MB; ROSENTHAL A; OGATA T; RAO E
      PSEUDOAUTOSOMAL DELETIONS ENCOMPASSING A NOVEL HOMEOBOX GENE CAUSE GROWTH FAILURE IN IDIOPATHIC SHORT STATURE AND TURNER-SYNDROME

      American journal of human genetics
    54. CLETONJANSEN AM; MOERLAND EW; BREUNING MH; CORNELISSE CJ
      CANDIDATE BREAST-TUMOR SUPPRESSOR GENES ON CHROMOSOMAL BAND 16Q24.3

      American journal of human genetics
    55. SMEETS HJM; VANDERLOOP FTL; TIMMER EDJ; BREUNING MH; LEMMINK HH; MONNENS LAH; SCHRODER CH
      IMMUNOHISTOCHEMICAL ANALYSIS OF BASEMENT-MEMBRANES IN PATIENTS WITH ALPORT-SYNDROME AND BENIGN FAMILIAL HEMATURIA

      American journal of human genetics
    56. VELDHUISEN B; SARIS JJ; DEHAIJ S; HAYASHI T; REYNOLDS DM; MOCHIZUKI T; ELLES R; FOSSDAL R; BOGDANOVA N; VANDIJK MA; COTO E; RAVINE D; NORBY S; VERELLENDUMOULIN C; BREUNING MH; SOMLO S; PETERS DJM
      A SPECTRUM OF MUTATIONS IN THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (PKD2)

      American journal of human genetics
    57. MUNROE PB; MITCHISON HM; ORAWE AM; ANDERSON JW; BOUSTANY RM; LERNER TJ; TASCHNER PEM; DEVOS N; BREUNING MH; GARDINER RM; MOLE SE
      SPECTRUM OF MUTATIONS IN THE BATTEN-DISEASE GENE, CLN3

      American journal of human genetics
    58. ODERMATT A; TASCHNER PEM; KHANNA VK; BUSCH HFM; KARPATI G; JABLECKI CK; BREUNING MH; MACLENNAN DH
      MUTATIONS IN THE GENE-ENCODING SERCA1, THE FAST-TWITCH SKELETAL-MUSCLE SARCOPLASMIC-RETICULUM CA2+ ATPASE, ARE ASSOCIATED WITH BRODY DISEASE

      Nature genetics
    59. PETERS DJM; VELDHUISEN B; SARIS JJ; HAYASHI T; MOCHIZUKI T; REYNOLDS DM; COTO E; FOSSDAL R; ELLES R; SOMLO S; BREUNING MH
      THE SPECTRUM OF MUTATIONS IN THE POLYCYSTIC KIDNEY-DISEASE-2 (PKD2) GENE

      Journal of the American Society of Nephrology
    60. ROELFSEMA J; PETERS DJM; SPRUIT L; BREUNING MH
      MUTATION DETECTION IN THE REPEATED PART OF THE POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE BY THE PROTEIN TRUNCATION TEST

      Journal of the American Society of Nephrology
    61. ROELFSEMA JH; PETERS DJM; BREUNING MH
      DETECTION OF TRANSLATION TERMINATING MUTATIONS IN THE PKD1 GENE

      Nephrology, dialysis, transplantation
    62. VELDHUISEN B; BREUNING MH; WESBYVANSWAAY E; BOERSMA J; PETERS DJM
      ANALYSIS OF A LARGE FAMILY WITH THE 2ND TYPE OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    63. VANDERREIJDEN BA; MARTINET D; DAUWERSE JG; GILES RH; WESSELS JW; BEVERSTOCK GC; SMIT B; MUHLEMATTER D; BELLOMO MJ; GABERT J; LAFAGEPOCHITALOFF M; REIFFERS J; BILHOUNABERA C; VANOMMEN GJB; HAGEMEIJER A; BREUNING MH
      SIMPLE METHOD FOR DETECTION OF MYH11 DNA REARRANGEMENTS IN PATIENTS WITH INV(16)(P13Q22) AND ACUTE MYELOID-LEUKEMIA

      Leukemia
    64. VANDERREIJDEN BA; VANOMMEN GJB; HAGEMEIJER A; BREUNING MH
      ACUTE MYELOGENOUS LEUKEMIA - A DISORDER OF GENE-SPLICING

      Leukemia
    65. CLETONJANSEN AM; MOERLAND EW; APOSTOLOU S; CALLEN DF; BERX G; VANROY F; DEVILEE P; BREUNING MH; COMELISSE CJ
      INVESTIGATION OF THE 2 REGIONS ON CHROMOSOME ARM 16Q THAT ARE CANDIDATES FOR CARRYING A TUMOR-SUPPRESSOR GENE INVOLVED IN BREAST-CANCER

      Cytogenetics and cell genetics
    66. GILES RH; PETRIJ F; DAUWERSE JG; BEVERSTOCK GC; HAGEMEIJER A; PETERS DJM; BREUNING MH
      CONSTRUCTION OF A 850-KB COSMID CONTIG SURROUNDING THE CBP GENE, INVOLVED IN RUBINSTEIN-TAYBI SYNDROME AND ANLL M4 M5 WITH T(8-16)(P11-P13.3)/

      Cytogenetics and cell genetics
    67. ALTHERR MR; AUERBACH AD; BIGGS PO; BURN TC; BREUNING MH; PETERS DJM; TASCHNER P; GILES R; VANDERREIJDEN B; CALLEN DF; CLETONJANSEN AM; DANIELS R; DOGGETT NA; DORIONBONNET F; DRIOUCH K; GIBSON R; INGVARSSON S; KASTNER DL; KWITEKBLACK AE; LANDEGENT JE; LODER B; MATTHIJS G; MOLE SE; OLSSON PG; PORTER CJ; PRONK JC; RICKE DO; SANDFORD R; SAVOIA A; SICILIANO MJ; SOOD R
      REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-16 MAPPING 1995 - HELD ON 12-14 NOVEMBER 1995 AT THE UNIVERSITY-OF-LEIDEN, THENETHERLANDS

      Cytogenetics and cell genetics
    68. VANDIJK MA; CHANG PC; PETERS DJM; BREUNING MH
      INTRACRANIAL ANEURYSMS IN POLYCYSTIC KIDNEY-DISEASE LINKED TO CHROMOSOME-4

      Kidney international
    69. PETERS DJM; SPRUIT L; KLINGEL R; PRINS F; BAELDE HJJ; GIORDANO PC; BERNINI LF; DEHEER E; BREUNING MH; BRUIJN JA
      ADULT, FETAL, AND POLYCYSTIC KIDNEY EXPRESSION OF POLYCYSTIN, THE POLYCYSTIC KIDNEY DISEASE-1 GENE-PRODUCT

      Laboratory investigation
    70. VANDERREIJDEN BA; HAGEMEIJER A; BREUNING MH
      NOVEL CBFB-MYH11 FUSION TRANSCRIPTS OR REVERSE TRANSCRIPTION-POLYMERASE CHAIN-REACTION ARTIFACTS

      Blood
    71. VANDIJK MA; CHANG PC; PETERS DJM; BREUNING MH
      INTRACRANIAL ANEURYSMS IN POLYCYSTIC KIDNEY-DISEASE LINKED TO CHROMOSOME-4

      Journal of the American Society of Nephrology
    72. PETERS DJM; KLINGEL R; BERNINI L; DEHEER E; BREUNING MH; BRUIJN JA
      IMMUNOHISTOCHEMICAL ANALYSIS OF RENAL TISSUE WITH POLYCLONAL ANTIBODIES AGAINST PEPTIDES ENCODED BY THE PREDICTED ADPKD1-PROTEIN

      Journal of the American Society of Nephrology
    73. BREUNING MH
      GENE DEFECT IN POLYCYSTIC KIDNEY-DISEASE

      Experimental nephrology
    74. BREUNING MH; PETERS DJM
      LATEST NEWS ON THE MAJOR GENE FOR POLYCYSTIC KIDNEY-DISEASE, PKD1

      Nephrology, dialysis, transplantation
    75. JARVELA IE; MITCHISON HM; ORAWE AM; MUNROE PB; TASCHNER PEM; DEVOS N; LERNER TJ; DARIGO KL; CALLEN DF; THOMPSON AD; KNIGHT M; MARRONE BL; MUNDT MO; MEINCKE L; BREUNING MH; GARDINER RM; DOGGETT NA; MOLE SE
      YAC AND COSMID CONTIGS SPANNING THE BATTEN-DISEASE (CLN3) REGION AT 16P12.1-P11.2

      Genomics
    76. CONSTANTINOUDELTAS CD; PAPAGEORGIOU E; BOTEVA K; CHRISTODOULOU K; BREUNING MH; PETERS DJM; PIERIDES A
      GENETIC-HETEROGENEITY IN ADULT DOMINANT POLYCYSTIC KIDNEY-DISEASE IN CYPRIOT FAMILIES

      Human genetics
    77. TASCHNER PEM; DEVOS N; BARIH PG; BREUNING MH; GARDINER RM; CALLEN DF; DOGGETT NA; LERNER TJ; DOOLEY T
      D16S298 NULL ALLELE MAY BE ASSOCIATED WITH A DELETION OF (PART OF) THE CLN3 GENE INVOLVED IN JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-DISEASE IN A MOROCCAN PATIENT)

      Cytogenetics and cell genetics
    78. HARRIS PC; THOMAS S; STALLINGS RL; BREUNING MH; RATCLIFFE PJ; WARD CJ
      A LARGE DUPLICATED AREA ON THE PROXIMAL EDGE OF THE POLYCYSTIC KIDNEY-DISEASE-1 (PKDI) REGION IS PRONE TO REARRANGEMENT

      Cytogenetics and cell genetics
    79. JARVELA IE; MITCHISON HM; GARDINER RM; CALLEN DF; BREUNING MH; LEMER TJ; MOLE SE; DOGGETT NA; DOOLEY TP
      LONG-RANGE RESTRICTION MAP OF A YAC CONTIG IN THE BATTEN-DISEASE REGION OF CHROMOSOME-16 AND EXCLUSION OF POTENTIAL CANDIDATE GENES FROM THIS REGION

      Cytogenetics and cell genetics
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      American journal of human genetics
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      American journal of human genetics
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      American journal of human genetics
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      American journal of human genetics
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      American journal of human genetics
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      American journal of human genetics
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      American journal of human genetics
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      Human molecular genetics
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/05/20 alle ore 02:34:57