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Niklas Dahl

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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X Chromosome

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Infant

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Sweden

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TOP 3
Carlsson Göran; Elinder Göran; Malmgren Helena; Trebinska Alicja; Grzybowska Ewa; Dahl Niklas; Nordenskjöld Magnus; Fadeel Bengt
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Badhai Jitendra; Fröjmark Anne-Sophie; J Davey Edward; Schuster Jens; Dahl Niklas
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Orlén Hanna; Melberg Atle; Raininko Raili; Kumlien Eva; Entesarian Miriam; Söderberg Per; Påhlman Magnus; Darin Niklas; Kyllerman Mårten; Holmberg Eva; Engler Henry; Eriksson Urban; Dahl Niklas
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

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All Publications

2009: Carlsson Göran; Elinder Göran; Malmgren Helena; Trebinska Alicja; Grzybowska Ewa; Dahl Niklas; Nordenskjöld Magnus; Fadeel Bengt
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Pediatric blood & cancer 2009;53(6):1143-6.
2009: Badhai Jitendra; Fröjmark Anne-Sophie; J Davey Edward; Schuster Jens; Dahl Niklas
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Biochimica et biophysica acta 2009;1792(10):1036-42.
2009: Orlén Hanna; Melberg Atle; Raininko Raili; Kumlien Eva; Entesarian Miriam; Söderberg Per; Påhlman Magnus; Darin Niklas; Kyllerman Mårten; Holmberg Eva; Engler Henry; Eriksson Urban; Dahl Niklas
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(7):984-92.
2009: Klar Joakim; Schweiger Martina; Zimmerman Robert; Zechner Rudolf; Li Hao; Törmä Hans; Vahlquist Anders; Bouadjar Bakar; Dahl Niklas; Fischer Judith
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
American journal of human genetics 2009;85(2):248-53.
2009: Badhai Jitendra; Fröjmark Anne-Sophie; Razzaghian Hamid Reza; Davey Edward; Schuster Jens; Dahl Niklas
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.
FEBS letters 2009;583(12):2049-53.
2009: Entesarian Miriam; Carlsson Birgit; Mansouri Mahmoud Reza; Stattin Eva-Lena; Holmberg Eva; Golovleva Irina; Stefansson Hreinn; Klar Joakim; Dahl Niklas
A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.
American journal of medical genetics. Part A 2009;149A(3):380-6.
2008: Carlsson G; van't Hooft I; Melin M; Entesarian M; Laurencikas E; Nennesmo I; Trebinska A; Grzybowska E; Palmblad J; Dahl N; Nordenskjöld M; Fadeel B; Henter J-I
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
Journal of internal medicine 2008;264(4):388-400.
2008: Matsson Hans; Eason Jacqueline; Bookwalter Carol S; Klar Joakim; Gustavsson Peter; Sunnegårdh Jan; Enell Henrik; Jonzon Anders; Vikkula Miikka; Gutierrez Ilse; Granados-Riveron Javier; Pope Mark; Bu'Lock Frances; Cox Jane; Robinson Thelma E; Song Feifei; Brook David J; Marston Steven; Trybus Kathleen M; Dahl Niklas
Alpha-cardiac actin mutations produce atrial septal defects.
Human molecular genetics 2008;17(2):256-65.
2008: Rasool Mahmood; Schuster Jens; Aslam Muhammad; Tariq Muhammad; Ahmad Ilyas; Ali Amjad; Entesarian Miriam; Dahl Niklas; Baig Shahid Mahmood
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.
Journal of human genetics 2008;53(10):894-8.
2007: Dahlqvist J; Klar J; Hausser I; Anton-Lamprecht I; Pigg M Hellström; Gedde-Dahl T; Gånemo A; Vahlquist A; Dahl N
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
Journal of medical genetics 2007;44(10):615-20.
2007: Carlsson Göran; Melin Malin; Dahl Niklas; Ramme Kim Göransdotter; Nordenskjöld Magnus; Palmblad Jan; Henter Jan-Inge; Fadeel Bengt
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.
Acta paediatrica (Oslo, Norway : 1992) 2007;96(6):813-9.
2007: Entesarian Miriam; Dahlqvist Johanna; Shashi Vandana; Stanley Christy S; Falahat Babak; Reardon William; Dahl Niklas
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
European journal of human genetics : EJHG 2007;15(3):379-82.
2007: Melin M; Entesarian M; Carlsson G; Garwicz D; Klein C; Fadeel B; Nordenskjöld M; Palmblad J; Henter J I; Dahl N
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Biochemical and biophysical research communications 2007;353(3):571-5.
2007: Klein Christoph; Grudzien Magda; Appaswamy Giridharan; Germeshausen Manuela; Sandrock Inga; Schäffer Alejandro A; Rathinam Chozhavendan; Boztug Kaan; Schwinzer Beate; Rezaei Nima; Bohn Georg; Melin Malin; Carlsson Göran; Fadeel Bengt; Dahl Niklas; Palmblad Jan; Henter Jan-Inge; Zeidler Cornelia; Grimbacher Bodo; Welte Karl
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Nature genetics 2007;39(1):86-92.
2006: Marklund Lena; Melin Malin; Melberg Atle; Giedraitis Vilmantas; Dahl Niklas
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(6):608-14.
2006: Frykholm Carina; Larsen Hans-Christian; Dahl Niklas; Klar Joakim; Rask-Andersen Helge; Friberg Ulla
Familial Ménière's disease in five generations.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2006;27(5):681-6.
2006: Klar Joakim; Frykholm Carina; Friberg Ulla; Dahl Niklas
A Meniere's disease gene linked to chromosome 12p12.3.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(5):463-7.
2006: Schatz Patrik; Klar Joakim; Andréasson Sten; Ponjavic Vesna; Dahl Niklas
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
Ophthalmic genetics 2006;27(2):51-6.
2006: Matsson H; Davey E J; Fröjmark A S; Miyake K; Utsugisawa T; Flygare J; Zahou E; Byman I; Landin B; Ronquist G; Karlsson S; Dahl N
Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.
Blood cells, molecules & diseases 2006;36(2):259-64.
2006: Mansouri Mahmoud Reza; Carlsson Birgit; Davey Edward; Nordenskjöld Agneta; Wester Tomas; Annerén Göran; Läckgren Göran; Dahl Niklas
Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.
Human genetics 2006;119(1-2):162-8.
2006: Mantripragada K K; Thuresson A-C; Piotrowski A; Díaz de Ståhl T; Menzel U; Grigelionis G; Ferner R E; Griffiths S; Bolund L; Mautner V; Nordling M; Legius E; Vetrie D; Dahl N; Messiaen L; Upadhyaya M; Bruder C E G; Dumanski J P
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Journal of medical genetics 2006;43(1):28-38.
2006: Melin M; Carlsson B; Anckarsater H; Rastam M; Betancur C; Isaksson A; Gillberg C; Dahl N
Constitutional downregulation of SEMA5A expression in autism.
Neuropsychobiology 2006;54(1):64-9.
2006: Melin M; Klar J; Jr Gedde-Dahl T; Fredriksson R; Hausser I; Brandrup F; Bygum A; Vahlquist A; Hellström Pigg M; Dahl N
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.
Journal of human genetics 2006;51(10):864-71.
2005: Chiocchetti Annalisa; Gibello Luisa; Carando Adriana; Aspesi Anna; Secco Paola; Garelli Emanuela; Loreni Fabrizio; Angelini Mara; Biava Alessandra; Dahl Niklas; Dianzani Umberto; Ramenghi Ugo; Santoro Claudio; Dianzani Irma
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.
Haematologica 2005;90(11):1453-62.
2005: Mansouri Mahmoud Reza; Marklund Lena; Gustavsson Peter; Davey Edward; Carlsson Birgit; Larsson Catharina; White Irene; Gustavson Karl-Henrik; Dahl Niklas
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.
European journal of human genetics : EJHG 2005;13(8):970-7.
2005: Klar Joakim; Asling Bengt; Carlsson Birgit; Ulvsbäck Magnus; Dellsén Anita; Ström Carina; Rhedin Magdalena; Forslund Anders; Annerén Göran; Ludvigsson Jonas F; Dahl Niklas
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.
European journal of human genetics : EJHG 2005;13(8):928-34.
2005: Flygare Johan; Kiefer Thomas; Miyake Koichi; Utsugisawa Taiju; Hamaguchi Isao; Da Costa Lydie; Richter Johan; Davey Edward J; Matsson Hans; Dahl Niklas; Wiznerowicz Maciej; Trono Didier; Karlsson Stefan
Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.
Blood 2005;105(12):4627-34.
2005: Entesarian Miriam; Matsson Hans; Klar Joakim; Bergendal Birgitta; Olson Lena; Arakaki Rieko; Hayashi Yoshio; Ohuchi Hideyo; Falahat Babak; Bolstad Anne Isine; Jonsson Roland; Wahren-Herlenius Marie; Dahl Niklas
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
Nature genetics 2005;37(2):125-7.
2004: Matsson Hans; Davey Edward J; Draptchinskaia Natalia; Hamaguchi Isao; Ooka Andreas; Levéen Per; Forsberg Erik; Karlsson Stefan; Dahl Niklas
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.
Molecular and cellular biology 2004;24(9):4032-7.
2004: Klar J; Gedde-Dahl T; Larsson M; Pigg M; Carlsson B; Tentler D; Vahlquist A; Dahl N
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.
Journal of medical genetics 2004;41(3):208-12.
2003: Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
Journal of medical genetics 2003;40(12):e133.
2003: Hamaguchi Isao; Flygare Johan; Nishiura Hiroshi; Brun Ann C M; Ooka Andreas; Kiefer Thomas; Ma Zhi; Dahl Niklas; Richter Johan; Karlsson Stefan
Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer.
Molecular therapy : the journal of the American Society of Gene Therapy 2003;7(5 Pt 1):613-22.
2003: Tentler Dmitry; Johannesson Tonnie; Johansson Maria; Råstam Maria; Gillberg Christopher; Orsmark Christina; Carlsson Birgit; Wahlström Jan; Dahl Niklas
A candidate region for Asperger syndrome defined by two 17p breakpoints.
European journal of human genetics : EJHG 2003;11(2):189-95.
2003: Gånemo Agneta; Pigg Maritta; Virtanen Marie; Kukk Terje; Raudsepp Heli; Rossman-Ringdahl Ingrid; Westermark Per; Niemi Kirsti-Maria; Dahl Niklas; Vahlquist Anders
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients.
Acta dermato-venereologica 2003;83(1):24-30.
2002: Gustavsson Peter; Klar Joakim; Matsson Hans; Forestier Erik; Henter Jan-Inge; Rao Sreedhar; Seip Martin; Skeppner Gunnar; Dahl Niklas
Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.
British journal of haematology 2002;119(1):261-4.
2002: Hamaguchi Isao; Ooka Andreas; Brun Ann; Richter Johan; Dahl Niklas; Karlsson Stefan
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.
Blood 2002;100(8):2724-31.
2001: Tentler D; Brandberg G; Betancur C; Gillberg C; Annerén G; Orsmark C; Green E D; Carlsson B; Dahl N
A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.
American journal of medical genetics 2001;105(8):729-36.
2000: Loman N; Johannsson O; Bendahl P; Dahl N; Einbeigi Z; Gerdes A; Borg A; Olsson H
Prognosis and clinical presentation of BRCA2-associated breast cancer.
European journal of cancer (Oxford, England : 1990) 2000;36(11):1365-73.
2000: Schueler M G; Higgins A W; Nagaraja R; Tentler D; Dahl N; Gustashaw K; Willard H F
Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
Genomics 2000;66(1):104-9.
2000: Pigg M; Gedde-Dahl T; Cox D W; Haugen G; Dahl N
Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.
Prenatal diagnosis 2000;20(2):132-7.
2000: Tentler D; Gustavsson P; Elinder G; Eklöf O; Gordon L; Mandel A; Dahl N
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.
Journal of medical genetics 2000;37(2):128-31.
2000: Borg E; Samuelsson E; Dahl N
Audiometric characterization of a family with digenic autosomal, dominant, progressive sensorineural hearing loss.
Acta oto-laryngologica 2000;120(1):51-7.
1999: Melberg A; Dahl N; Hetta J; Valind S; Nennesmo I; Lundberg P O; Raininko R
Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
Neurology 1999;53(9):2190-2.
1999: Willig T N; Draptchinskaia N; Dianzani I; Ball S; Niemeyer C; Ramenghi U; Orfali K; Gustavsson P; Garelli E; Brusco A; Tiemann C; Pérignon J L; Bouchier C; Cicchiello L; Dahl N; Mohandas N; Tchernia G
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.
Blood 1999;94(12):4294-306.
1999: Melberg A; Oldfors A; Blomström-Lundqvist C; Stålberg E; Carlsson B; Larrson E; Lidell C; Eeg-Olofsson K E; Wikström G; Henriksson G; Dahl N
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.
Annals of neurology 1999;46(5):684-92.
1999: Matsson H; Klar J; Draptchinskaia N; Gustavsson P; Carlsson B; Bowers D; de Bont E; Dahl N
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.
Human genetics 1999;105(5):496-500.
1999: Balciuniene J; Dahl N; Jalonen P; Verhoeven K; Van Camp G; Borg E; Pettersson U; Jazin E E
Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes.
Human genetics 1999;105(3):211-6.
1999: Tentler D; Gustavsson P; Leisti J; Schueler M; Chelly J; Timonen E; Annerén G; Willard H F; Dahl N
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.
European journal of human genetics : EJHG 1999;7(5):541-8.
1999: Cario H; Bode H; Gustavsson P; Dahl N; Kohne E
A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.
Clinical genetics 1999;55(6):487-92.
1999: Ramenghi U; Garelli E; Valtolina S; Campagnoli M F; Timeus F; Crescenzio N; Mair M; Varotto S; D'Avanzo M; Nobili B; Massolo F; Mori P G; Locatelli F; Gustavsson P; Dahl N; Dianzani I
Diamond-Blackfan anaemia in the Italian population.
British journal of haematology 1999;104(4):841-8.
1999: Cossée M; Dürr A; Schmitt M; Dahl N; Trouillas P; Allinson P; Kostrzewa M; Nivelon-Chevallier A; Gustavson K H; Kohlschütter A; Müller U; Mandel J L; Brice A; Koenig M; Cavalcanti F; Tammaro A; De Michele G; Filla A; Cocozza S; Labuda M; Montermini L; Poirier J; Pandolfo M
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Draptchinskaia N; Gustavsson P; Andersson B; Pettersson M; Willig T N; Dianzani I; Ball S; Tchernia G; Klar J; Matsson H; Tentler D; Mohandas N; Carlsson B; Dahl N
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Nature genetics 1999;21(2):169-75.
1998: Arnell H; Mäntyjärvi M; Tuppurainen K; Andréasson S; Dahl N
Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families.
Acta ophthalmologica Scandinavica 1998;76(6):649-52.
1998: Willig T N; Pérignon J L; Gustavsson P; Gane P; Draptchinskaya N; Testard H; Girot R; Debré M; Stéphan J L; Chenel C; Cartron J P; Dahl N; Tchernia G
High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).
Blood 1998;92(11):4422-7.
1998: Pigg M; Gedde-Dahl T; Cox D; Hausser I; Anton-Lamprecht I; Dahl N
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
European journal of human genetics : EJHG 1998;6(6):589-96.
1998: Strautnieks S S; Bull L N; Knisely A S; Kocoshis S A; Dahl N; Arnell H; Sokal E; Dahan K; Childs S; Ling V; Tanner M S; Kagalwalla A F; Németh A; Pawlowska J; Baker A; Mieli-Vergani G; Freimer N B; Gardiner R M; Thompson R J
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Nature genetics 1998;20(3):233-8.
1998: Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willig T N; Tentler D; Dianzani I; Punnett H H; Shafer F E; Cario H; Ramenghi U; Glomstein A; Pfeiffer R A; Goringe A; Olivieri N F; Smibert E; Tchernia G; Elinder G; Dahl N
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
American journal of human genetics 1998;63(5):1388-95.
1998: Laporte J; Blondeau F; Buj-Bello A; Tentler D; Kretz C; Dahl N; Mandel J L
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Human molecular genetics 1998;7(11):1703-12.
1998: Balciuniene J; Dahl N; Borg E; Samuelsson E; Koisti M J; Pettersson U; Jazin E E
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.
American journal of human genetics 1998;63(3):786-93.
1997: Gustavsson P; Skeppner G; Johansson B; Berg T; Gordon L; Kreuger A; Dahl N
Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.
Journal of medical genetics 1997;34(9):779-82.
1997: Arnell H; Nemeth A; Annerén G; Dahl N
Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.
Human genetics 1997;100(3-4):378-81.
1997: Gustavsson P; Willing T N; van Haeringen A; Tchernia G; Dianzani I; Donnér M; Elinder G; Henter J I; Nilsson P G; Gordon L; Skeppner G; van't Veer-Korthof L; Kreuger A; Dahl N
Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.
Nature genetics 1997;16(4):368-71.
1997: Dahl N; Pigg M; Ristoff E; Gali R; Carlsson B; Mannervik B; Larsson A; Board P
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Human molecular genetics 1997;6(7):1147-52.
1997: Laporte J; Kioschis P; Hu L J; Kretz C; Carlsson B; Poustka A; Mandel J L; Dahl N
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
Genomics 1997;41(3):458-62.
1997: Arnell H; Hjälmås K; Jägervall M; Läckgren G; Stenberg A; Bengtsson B; Wassén C; Emahazion T; Annerén G; Pettersson U; Sundvall M; Dahl N
The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.
Journal of medical genetics 1997;34(5):360-5.
1997: Håkansson S; Johannsson O; Johansson U; Sellberg G; Loman N; Gerdes A M; Holmberg E; Dahl N; Pandis N; Kristoffersson U; Olsson H; Borg A
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.
American journal of human genetics 1997;60(5):1068-78.
1996: Melberg A; Arnell H; Dahl N; Stålberg E; Raininko R; Oldfors A; Bakall B; Lundberg P O; Holme E
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.
Muscle & nerve 1996;19(12):1561-9.
1996: Malmgren H; Gustavsson J; Tuvemo T; Dahl N
Rapid detection of a mutation hot-spot in the human androgen receptor.
Clinical genetics 1996;50(4):202-5.
1996: de Kok Y J; Vossenaar E R; Cremers C W; Dahl N; Laporte J; Hu L J; Lacombe D; Fischel-Ghodsian N; Friedman R A; Parnes L S; Thorpe P; Bitner-Glindzicz M; Pander H J; Heilbronner H; Graveline J; den Dunnen J T; Brunner H G; Ropers H H; Cremers F P
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.
Human molecular genetics 1996;5(9):1229-35.
1996: Laporte J; Hu L J; Kretz C; Mandel J L; Kioschis P; Coy J F; Klauck S M; Poustka A; Dahl N
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
Nature genetics 1996;13(2):175-82.
1996: Hu L J; Laporte J; Kress W; Dahl N
Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers.
Prenatal diagnosis 1996;16(3):231-7.
1996: Hu L J; Laporte J; Kress W; Kioschis P; Siebenhaar R; Poustka A; Fardeau M; Metzenberg A; Janssen E A; Thomas N; Mandel J L; Dahl N
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
Human molecular genetics 1996;5(1):139-43.
1995: Melberg A; Hetta J; Dahl N; Nennesmo I; Bengtsson M; Wibom R; Grant C; Gustavson K H; Lundberg P O
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
Journal of the neurological sciences 1995;134(1-2):119-29.
1995: Bondeson M L; Dahl N; Malmgren H; Kleijer W J; Tönnesen T; Carlberg B M; Pettersson U
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.
Human molecular genetics 1995;4(4):615-21.
1995: Bondeson M L; Malmgren H; Dahl N; Carlberg B M; Pettersson U
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
European journal of human genetics : EJHG 1995;3(4):219-27.
1994: Dahl N; Samson F; Thomas N S; Hu L J; Gong W; Herman G; Laporte J; Kioschis P; Poustka A; Mandel J L
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
Journal of medical genetics 1994;31(12):922-4.
1994: Malmgren H; Gustavson K H; Oudet C; Holmgren G; Pettersson U; Dahl N
Strong founder effect for the fragile X syndrome in Sweden.
European journal of human genetics : EJHG 1994;2(2):103-9.
1993: Malmgren H; Sundvall M; Dahl N; Gustavson K H; Annerén G; Wadelius C; Steén-Bondeson M L; Pettersson U
Linkage mapping of a severe X-linked mental retardation syndrome.
American journal of human genetics 1993;52(6):1046-52.
1993: Cavelier L; Gyllensten U; Dahl N
Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.
Clinical genetics 1993;43(2):69-72.
1992: Malmgren H; Gustavson K H; Wahlström J; Arpi-Henriksson I; Bensch J; Pettersson U; Dahl N
Infantile autism--fragile X: molecular findings support genetic heterogeneity.
American journal of medical genetics 1992;44(6):830-3.
1992: Steén-Bondeson M L; Dahl N; Tönnesen T; Kleijer W J; Seidlitz G; Gustavson K H; Wilson P J; Morris C P; Hopwood J J; Pettersson U
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Human molecular genetics 1992;1(3):195-8.
1992: Malmgren H; Steén-Bondeson M L; Gustavson K H; Seémanova E; Holmgren G; Oberlé I; Mandel J L; Pettersson U; Dahl N
Methylation and mutation patterns in the fragile X syndrome.
American journal of medical genetics 1992;43(1-2):268-78.
1991: Dahl N; Sundvall M; Pettersson U; Andréasson S; Anvret M; Kugelberg U; Hagbyhn-Gericke A; Goonewardena P
Genetic mapping of loci for X-linked retinitis pigmentosa.
Clinical genetics 1991;40(6):435-40.
1991: Lagerström M; Dahl N; Nakahori Y; Nakagome Y; Bäckman B; Landegren U; Pettersson U
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1).
Genomics 1991;10(4):971-5.
1991: van Oost B A; Smits A; Dreesen J C; Smeets D; Perdon L; van Bennekom C A; Dahl N; Bakker E; Oostra B A
Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.
American journal of medical genetics 1991;38(2-3):328-31.
1991: Dahl N; Malmgren H; Pettersson U; Holmgren G; Seemanová E; Gustavson K H
Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304.
American journal of medical genetics 1991;38(2-3):319-21.
1990: Dahl N; Lagerström M; Erikson A; Pettersson U
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
American journal of human genetics 1990;47(2):275-8.
1990: Dahl N; Lagerström M; Erikson A; Pettersson U
Simplified detection of Nci mutation in Gaucher disease.
Lancet 1990;335(8705):1589-90.
1990: Lagerström M; Dahl N; Iselius L; Bäckman B; Pettersson U
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.
American journal of human genetics 1990;46(1):120-5.
1989: Vincent A; Dahl N; Oberlé I; Hanauer A; Mandel J L; Malmgren H; Pettersson U
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.
Genomics 1989;5(4):797-801.
1989: Dahl N; Goonewardena P; Malmgren H; Gustavson K H; Holmgren G; Seemanova E; Annerén G; Flood A; Pettersson U
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).
American journal of human genetics 1989;45(2):304-9.
1989: Dahl N; Hammarström-Heeroma K; Goonewardena P; Wadelius C; Gustavson K H; Holmgren G; van Ommen G J; Pettersson U
Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.
Human genetics 1989;82(3):216-8.
1989: Dahl N; Hammarström-Heeroma K; van Ommen G B; Pettersson U
A polymorphic locus at Xq27-28 detected by the probe U6.2 [DXS304].
Nucleic acids research 1989;17(7):2884.
1989: Goonewardena P; Dahl N; Ritzén M; van Ommen G J; Pettersson U
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
Clinical genetics 1989;35(1):5-12.
1988: Dahl N; Eliasson I L; Gustavson K H
A case of complete trisomy 2p/triploidy mosaicism.
Acta paediatrica Scandinavica 1988;77(6):925-9.
1988: Dahl N; Erikson A; Hammarström-Heeroma K; Pettersson U
Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.
Genomics 1988;3(4):296-8.
1988: Dahl N; Pettersson U
Use of linked DNA probes for carrier detection and diagnosis of X-linked juvenile retinoschisis.
Archives of ophthalmology 1988;106(10):1414-6.
1988: Dahl N; Goonewardena P; Chotai J; Anvret M; Pettersson U
DNA linkage analysis of X-linked retinoschisis.
Human genetics 1988;78(3):228-32.

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