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Publications

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Breckpot J, Anderlid Bm, Alanay Y, Blyth M, Brahimi A, Duban-bedu B, et al
European journal of human genetics : EJHG 2016;24(1):51-8

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome
Wincent J, Luthman A, Van Belzen M, Van Der Lans C, Albert J, Nordgren A, et al
Molecular genetics & genomic medicine 2016;4(1):39-45

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid Bm, et al
Clinical genetics 2016;89(1):99-103

Copy number variations in children with brain malformations and refractory epilepsy
Wincent J, Kolbjer S, Martin D, Luthman A, Åmark P, Dahlin M, et al
American journal of medical genetics. Part A 2015;167A(3):512-23

CTNND2-a candidate gene for reading problems and mild intellectual disability
Hofmeister W, Nilsson D, Topa A, Anderlid Bm, Darki F, Matsson H, et al
Journal of medical genetics 2015;52(2):111-22

Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, et al
European journal of human genetics : EJHG 2015;23(9):1165-70

Rare copy number variants are common in young children with autism spectrum disorder
Eriksson Ma, Liedén A, Westerlund J, Bremer A, Wincent J, Sahlin E, et al
Acta paediatrica (Oslo, Norway : 1992) 2015;104(6):610-8

3p25.3 Microdeletion of GABA Transporters SLC6A1 and SLC6A11 Results in Intellectual Disability, Epilepsy and Stereotypic Behavior
Dikow N, Maas B, Karch S, Granzow M, Janssen Jwg, Jauch A, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2014;164(12):3061-8

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
Journal of medical genetics 2014;51(1):45-54

GENE DOSE IMBALANCES IN CHILDREN WITH BRAIN MALFORMATIONS AND REFRACTORY EPILEPSY
Kolbjer S, Wincent J, Martin D, Luthman A, Amark P, Dahlin M, et al
EPILEPSIA 2014;:12-12

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36
Zaveri Hp, Beck Tf, Hernández-garcía A, Shelly Ke, Montgomery T, Van Haeringen A, et al
PloS one 2014;9(1):e85600-

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Disciglio V, Lo Rizzo C, Mencarelli Ma, Mucciolo M, Marozza A, Di Marco C, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2014;164(7):1666-76

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype
Anderlid Bm, Lundin J, Malmgren H, Lehtihet M, Nordgren A
American journal of medical genetics. Part A 2014;164A(2):425-31

The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
Bölte S, Willfors C, Berggren S, Norberg J, Poltrago L, Mevel K, et al
Twin research and human genetics : the official journal of the International Society for Twin Studies 2014;17(3):164-76

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M, Nilsson D, Lindstrand A, Korenke Gc, Chiang Sc, Blennow E, et al
Journal of medical genetics 2013;50(8):521-8

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Makrythanasis P, Van Bon Bw, Steehouwer M, Rodriguez-santiago B, Simpson M, Dias P, et al
CLINICAL GENETICS 2013;84(6):539-45

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Bena F, Bruno Dl, Eriksson M, Van Ravenswaaij-arts C, Stark Z, Dijkhuizen T, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2013;162B(4):388-403

Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T, Lundin J, Anderlid Bm, Gorski Jl, Grigelioniene G, Knight Sj, et al
European journal of human genetics : EJHG 2013;21(10):1085-92

Partial tetrasomy 14 associated with multiple malformations
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, et al
American journal of medical genetics. Part A 2013;161A(6):1284-90

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Halgren C, Kjaergaard S, Bak M, Hansen C, El-schich Z, Anderson Cm, et al
CLINICAL GENETICS 2012;82(3):248-55

First-degree relatives of young children with autism spectrum disorders: some gender aspects
Eriksson Ma, Westerlund J, Anderlid Bm, Gillberg C, Fernell E
Research in developmental disabilities 2012;33(5):1642-8

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
Lindsay Me, Schepers D, Bolar Na, Doyle Jj, Gallo E, Fert-bober J, et al
NATURE GENETICS 2012;44(8):922-7

Nasal speech in patients with 12q15 microdeletions
Vergult S, Krgovic D, Loeys B, Lyonnet S, Lieden A, Anderlid Bm, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2012;20(4):367-367

Clinical perinatal genetics
Anderlid Bm, Bui Th
SEMINARS IN FETAL & NEONATAL MEDICINE 2011;16(2):69-

Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders
Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2011;156B(2):115-24

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
Wincent J, Anderlid Bm, Lagerberg M, Nordenskjold M, Schoumans J
CLINICAL GENETICS 2011;79(2):147-57

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
Bonaglia Mc, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, et al
PLOS GENETICS 2011;7(7):e1002173-

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
Vergult S, Krgovic D, Loeys B, Lyonnet S, Lieden A, Anderlid Bm, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2011;19(10):1032-7

Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J, Gustavsson P, Lagerstedt-robinson K, Blennow E, Lundin J, Iwarsson E, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010;152A(9):2277-86

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
Wincent J, Schoumans J, Anderlid Bm
EUROPEAN JOURNAL OF MEDICAL GENETICS 2010;53(1):50-3

Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, et al
CLINICAL GENETICS 2010;77(2):145-54

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Bruno Dl, Anderlid Bm, Lindstrand A, Van Ravenswaaij-arts C, Ganesamoorthy D, Lundin J, et al
JOURNAL OF MEDICAL GENETICS 2010;47(5):299-311

[Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis]
Anderlid Bm, Blennow E, Giacobini M, Nordgren A, Wincent J, Schoumans J, et al
Lakartidningen 2010;107(17):1144-9

Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions
Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010;152A(5):1233-43

Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification
Bremer A, Giacobini M, Nordenskjold M, Brondum-nielsen K, Mansouri M, Dahl N, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2010;153B(1):280-5

A comparative, high resolution analysis of DNA - a technological challenge or a real breakthrough in the diagnostics of genomic diseases
Lindstrand A, Anderlid B, Bruno D, Lundin J, Martin Cl, Nowak C, et al
CHROMOSOME RESEARCH 2009;:92-93

An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
Bremer A, Schoumans J, Nordenskjold M, Anderlid Bm, Giacobini M
EUROPEAN JOURNAL OF MEDICAL GENETICS 2009;52(5):358-62

Array-CGH as a method for detection of monogenic disorders
Anderlid B, Grigelioniene G, Schoumans J, Kvarnung M, Ann N
CHROMOSOME RESEARCH 2009;:187-187

Atypical deletion in the Prader Willi region
Nordgren A, Lundin J, Malmgren H, Lehtihet M, Anderlid B
CHROMOSOME RESEARCH 2009;:80-81

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
Barbaro M, Balsamo A, Anderlid Bm, Myhre Ag, Gennari M, Nicoletti A, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2009;17(11):1439-47

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
Bijlsma Ek, Gijsbers Acj, Schuurs-hoeijmakers Jhm, Van Haeringen A, Van De Putte Def, Anderlid Bm, et al
EUROPEAN JOURNAL OF MEDICAL GENETICS 2009;52(2-3):77-87

Identification of a novel microdeletion syndrome in 17p13.3 distinct from isolated lissencephaly sequence and Miller-Dieker syndrome
Lindstrand A, Anderlid B, Bruno D, Lundin J, Martin Cl, Nowak C, et al
CHROMOSOME RESEARCH 2009;:92-92

Screening for Genomic Imbalances in Autism Spectrum Disorders (ASDs) using Array-based Comparative Genomic Hybridization (array-CGH)
Bremer A, Anderlid B, Nordenskjold M, Giacobini M, Schoumans J
CHROMOSOME RESEARCH 2009;:91-91

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
Wincent J, Holmberg E, Stromland K, Soller M, Mirzaei L, Djureinovic T, et al
CLINICAL GENETICS 2008;74(1):31-8

Concurrent microdeletion and duplication of 22q11.2
Blennow E, Lagerstedt K, Malmgren H, Sahlen S, Schoumans J, Anderlid Bm
CLINICAL GENETICS 2008;74(1):61-7

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
Maas Nmc, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, et al
JOURNAL OF MEDICAL GENETICS 2008;45(2):71-80

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches
Koolen Da, Sistermans Ea, Nilessen W, Knight Sjl, Regan R, Liu Yt, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2008;16(3):395-400

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
Zhou Xl, Giacobini M, Anderlid Bm, Anckarsater H, Omrani D, Gillberg C, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2007;144B(3):351-4

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2007;15(2):143-9

Screening for gene dose imbalances of autism candidate genes in patients with autism spectrum disorders (ASD) using two-color MLPA
Bremer A, Anderlid Bm, Brondum-nielsen K, Dahl N, Barbaro M, Mansouri M, et al
CELLULAR ONCOLOGY 2007;29(2):135-135

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
Koolen Da, Vissers Lelm, Pfundt R, De Leeuw N, Knight Sjl, Regan R, et al
NATURE GENETICS 2006;38(9):999-1001

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
Bonaglia Mc, Giorda R, Mani E, Aceti G, Anderlid Bm, Baroncini A, et al
JOURNAL OF MEDICAL GENETICS 2006;43(10):822-8

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)
Schoumans J, Sanner G, Nordenskjold M, Anderlid Bm
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2005;134A(3):254-8

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb
Schoumans J, Staaf J, Jonsson G, Rantala J, Zimmer Ks, Borg A, et al
EUROPEAN JOURNAL OF MEDICAL GENETICS 2005;48(3):290-300

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid Bm, Nordenskjold M
JOURNAL OF MEDICAL GENETICS 2005;42(9):699-705

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
Schoumans J, Nordgren A, Ruivenkamp C, Brondum-nielsen K, Teh Bt, Anneren G, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2005;13(2):260-3

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size
Schoumans J, Nielsen K, Jeppesen I, Anderlid Bm, Blennow E, Brondum-nielsen K, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2004;12(6):447-54

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
Stewart Dr, Huang A, Faravelli F, Anderlid Bm, Medne L, Ciprero K, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2004;128A(4):340-51

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances
Schoumans J, Anderlid Bm, Blennow E, Teh Bt, Nordenskjold M
JOURNAL OF MEDICAL GENETICS 2004;41(3):198-202

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
Anderlid Bm, Schoumans J, Hallqvist A, Stahl Y, Wallin A, Blennow E, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2003;11(1):89-92

The 9q subtelomeric microdeletion syndrome: Evidence for genomic susceptibility
Huang A, Stewart Dr, Faravelli F, Anderlid Bm, Kaur M, Rossi E, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2003;73(5):426-426

FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid Bm, Schoumans J, Anneren G, Tapia-paez I, Dumanski J, Blennow E, et al
HUMAN GENETICS 2002;110(5):439-43

Submicroscopic telomere deletions of chromosome 9q
Stewart D, Zackai E, Huang A, Medne L, Russell K, Rossi E, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2002;71(4):299-299

Subtelomeric rearrangements detected in patients with idiopathic mental retardation
Anderlid Bm, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, et al
AMERICAN JOURNAL OF MEDICAL GENETICS 2002;107(4):275-84

Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson Sa, Eklof O, Enkvist O, et al
HUMAN GENETICS 2001;109(5):551-8

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
Anderlid Bm, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, et al
AMERICAN JOURNAL OF MEDICAL GENETICS 2001;99(3):223-33

Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with isochromosomes i(9p) and i(9q)
Anderlid Bm, Bjorck Ej, Blennow E
CYTOGENETICS AND CELL GENETICS 1999;85(1-2):137-137

Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q)
Bjorck Ej, Anderlid Bm, Blennow E
AMERICAN JOURNAL OF MEDICAL GENETICS 1999;87(1):49-52

Subtelomeric rearrangements detected by FISH in patients with idiopatic mental retardation.
Anderlid B, Anneren G, Blennow E, Nordenskjold M
AMERICAN JOURNAL OF HUMAN GENETICS 1999;65(4):A67-A67

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