A. Gal

发表

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

J. Heckenlively, F. Rüschendorf, C. Becker, 2004, Nature Genetics.

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

J. Al-Aama, B. Lorenz, T. Neuhann, 2013, PloS one.

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

A. Mansour, C. Petit, S. Blanchard, 2000, Nature Genetics.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

C. Petit, M. Mustapha, D. Weil, 2003, Human molecular genetics.

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C

F. Krummenauer, A. Gal, M. Vanier, 2006, Journal of Inherited Metabolic Disease.

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

K. Kutsche, E. Schwinger, G. Gillessen‐kaesbach, 2002, Human mutation.

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

B. Weber, B. Wissinger, S. Andréasson, 2009, American journal of ophthalmology.

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

E. Zrenner, R. Wilke, G. Utermann, 2007, Investigative Ophthalmology and Visual Science.

Risk gene variants for nicotine dependence in the CHRNA5–CHRNA3–CHRNB4 cluster are associated with cognitive performance

Christian Gieger, Thomas Meitinger, Jürgen Gallinat, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addiction

C. Gieger, D. Rujescu, I. Giegling, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Prevalence of uncontrolled hypertension in patients with Fabry disease.

G. Houge, A. Mehta, A. Schwarting, 2006, American journal of hypertension.

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

S. Mundlos, P. Krawitz, J. Hecht, 2014, Brain : a journal of neurology.

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

H. Fledelius, T. Rosenberg, D. Schorderet, 2011, American journal of human genetics.

Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease

R. Nitsch, C. Hock, G. Binetti, 2004, Neuroscience Letters.

Increase in left ventricular mass index and acroparesthesia incidence in children with Fabry disease correlates with their GLA mutation

U. Ramaswami, G. Pintos-Morell, A. Gal, 2013 .

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

H. Kresse, A. Tylki-Szymańska, A. Gal, 1996, American journal of human genetics.

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.

E. Schwinger, A. Blankenagel, A. Gal, 1993, Human molecular genetics.

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

E. Zrenner, S. Bhattacharya, P. Humphries, 1994, Human molecular genetics.

Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

K. Narfström, A. Gal, S. Nilsson, 1999, Genomics.

Erratum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy (Nature Genetics (2004) 36 (850-854))

Peter Nürnberg, Eduard Schmid, Franz Rüschendorf, 2004 .

Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.

A. Gal, S. Krey, C. Duvigneau, 1993, Human molecular genetics.

Oguchi disease: suggestion of linkage to markers on chromosome 2q.

S. Jablonka, A. Gal, G. Kumaramanickavel, 1995, Journal of medical genetics.

Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene.

M. Tamai, A. Gal, M. Nakazawa, 1997, Retina.

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

P. Sieving, D. Vollrath, Kecia L. Feathers, 2004, Investigative ophthalmology & visual science.

The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy

A. Schwarting, F. Krummenauer, A. Gal, 2004, Clinical genetics.

Mutational analysis of the GLA gene in Mexican families with Fabry disease

A. Gal, L. Figuera, B. E. Gutiérrez-Amavizca, 2017, Journal of Genetics.

Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.

F. Thaiss, R. Stahl, S. Harendza, 2005, Journal of nephrology.

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Z. Lukacs, R. Santer, A. Gal, 2015, JIMD reports.

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

A. Linhart, A. Gal, M. Beck, 2008, International journal of cardiology.

Cardiac manifestations of Anderson-Fabry disease in heterozygous females.

A. Gal, M. Ries, M. Beck, 2002, Journal of the American College of Cardiology.

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

T. Rosenberg, E. Schwinger, W. Baehr, 1994, Nature Genetics.

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

Silvio Alessandro Di Gioia, C. Rivolta, C. Iseli, 2009, Molecular vision.

Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes

J. Kriegsmann, B. Winchester, A. Gal, 2001, Journal of Inherited Metabolic Disease.

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease

J. Kriegsmann, A. Schwarting, A. Gal, 2006, Pediatric Nephrology.

Fabry disease: overall effects of agalsidase alfa treatment

G. Houge, A. Mehta, U. Ramaswami, 2004, European journal of clinical investigation.

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease

A. Gal, M. Beck, E. Mengel, 2009, Genetics in Medicine.

PRENATAL DIAGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH A DNA PROBE

K. Davies, K. Zerres, D. Weatherall, 1986, The Lancet.

Novel mutations and repeated findings of mutations in familial Alzheimer disease

M. Anagnostouli, E. Patsouris, K. Lamszus, 2005, Neurogenetics.

Corrigendum: Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

T. Rosenberg, E. Schwinger, W. Baehr, 1994, Nature Genetics.

Mutations in TOPORS: A Rare Cause of Autosomal Dominant Retinitis Pigmentosa in Continental Europe?

S. Bhattacharya, K. Rüther, S. Kindler, 2009, Ophthalmic genetics.

Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.

M. Tamai, A. Gal, M. Nakazawa, 1995, Journal of medical genetics.

Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

H. Bolz, A. Gal, M. Wehnert, 1999, Journal of Inherited Metabolic Disease.

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.

L. Sandkuijl, A. Bergen, A. Westerveld, 1994, Genomics.

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

P. Sieving, Yun Li, T. J. Carlson, 2001, Nature Genetics.

Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity

B. Wirth, K. Zerres, P. Landais, 1989, Clinical genetics.

Reply to Croes et al.

R. Nitsch, C. Hock, G. Binetti, 2000 .

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

N. Karabul, A. Gal, A. Sodi, 2015, PloS one.

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

A. Mehta, A. Gal, E. Schaefer, 2005, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Three cases of 45,X/46,XYnf mosaicism

A. Gal, D. Gänshirt-Ahlert, I. Pawlowitzki, 1987, Human Genetics.

Autosomal recessive retinitis pigmentosa locus RP 28 maps between D 2 S 1337 and D 2 S 286 on chromosome 2 p 11p 15 in an Indian family

C. Srikumari, A. Gal, G. Kumaramanickavel, 1999 .

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

E. Schwinger, A. Gal, U. Orth, 1994, Human molecular genetics.

Does proximal myotonic myopathy show anticipation?

B. Kruse, A. Gal, P. Steinbach, 2008, Human mutation.

Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti

A. Dufke, T. Orlikowsky, B. Vollmer, 2001, Prenatal diagnosis.

Seventeen novel PLP1 mutations in patients with Pelizaeus‐Merzbacher disease

C. Hübner, A. Gal, R. Korinthenberg, 2005, Human mutation.

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.

N. Sousa, A. Gal, M. Gago, 2020, Molecular genetics and metabolism.

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro

R. Santer, U. Finckh, A. Gal, 2006, FEBS letters.

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group

B. Winchester, D. Hughes, A. Gal, 2011, Journal of Inherited Metabolic Disease.

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents

U. Ramaswami, A. Gal, R. Parini, 2003, European Journal of Pediatrics.

Dinucleotide repeat polymorphisms at D9S171 and D9S741 are identical

A. Gal, S. Xu, M. Schürmann, 1996, Clinical genetics.

Letter to the editor: Refined localization of the Prieto‐Syndrome locus

F. Martínez, A. Gal, F. Prieto, 1996 .

Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan

J. Weber, J. Leutelt, A. Gal, 1995, Clinical genetics.

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D

B. Lorenz, H. Bolz, E. Schwinger, 2002, Human mutation.

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

E. Zrenner, T. Rosenberg, M. Sadeghi, 1999, Human mutation.

[3]Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids

A. Gal, S. Bunge, S. Fuchs, 1996 .

Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.

A. Czeizel, H. Nothwang, K. Kutsche, 2002, American journal of medical genetics.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

T. Braulke, A. Gal, S. Pohl, 2011, American journal of medical genetics. Part A.

Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate‐2‐sulphatase gene

E. Schwinger, J. Hopwood, A. Gal, 1993, Human mutation.

Missense mutation ( R 15 W ) of the connexin 32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members a V ected

K. Kunze, A. Gal, E. Wicklein, 1998 .

Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected

K. Kunze, A. Gal, E. Wicklein, 1997, Journal of neurology, neurosurgery, and psychiatry.

Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa.

T. Rosenberg, A. Gal, K. Grundmann, 1996, Ophthalmic genetics.

Characterization of canine rod photoreceptor cGMP-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards.

A. Gal, S. Nilsson, A. Veske, 1997, Gene.

Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish Briard retinal dystrophy.

K. Narfström, D. Sargan, U. Finckh, 1997, Current eye research.

Targeted Disruption of the Murine Retinal Dehydrogenase Gene Rdh12 Does Not Limit Visual Cycle Function

M. Schweizer, I. Kurth, C. Hübner, 2006, Molecular and Cellular Biology.

Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.

B. Lorenz, A. Gal, M. Horn, 1992, American journal of human genetics.

Late-onset familial onychodystrophy heralding incontinentia pigmenti.

R. Happle, A. Gal, R. Danarti, 2005, Acta dermato-venereologica.

Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

T. Braulke, C. Mühlhausen, A. Gal, 2007, Pediatrics.

MUTATION IN BRIEF HUMAN MUTATION

F. Meire, U. Kellner, A. Gal, 2017 .

Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene.

W. Brück, L. Hesse, A. Gal, 1997, Ophthalmic genetics.

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.

N. Bornfeld, U. Kellner, M. Foerster, 1996, Ophthalmic genetics.

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome

F. Meire, U. Kellner, A. Gal, 1996, Human mutation.

Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.

L. Hesse, A. Gal, B. Schroeder, 1996, Ophthalmic genetics.

Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy

M. Tegenthoff, M. Vorgerd, A. Gal, 2010, Journal of Neurology.

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

E. Schwinger, A. Schinzel, M. Ludwig, 1991, Genomics.

Angiokeratoma and pain, but not Fabry's disease: considerations for differential diagnosis.

K. Wendrich, A. Gal, M. Ries, 2001, Contributions to nephrology.

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

M. Bondeson, A. Tylki-Szymańska, A. Gal, 1998, European Journal of Human Genetics.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

H. Bolz, D. Wieczorek, K. Kutsche, 2003, American journal of medical genetics. Part A.

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons

M. Schachner, U. Finckh, A. Gal, 2002, Human mutation.

Mutations in the Gene for the B-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase (PDEB) in Patients with Retinal Dystrophies and Dysfunctions

E. Zrenner, T. Rosenberg, T. Rosenberg, 1995 .

Rdh12 Activity and Effects on Retinoid Processing in the Murine Retina*

A. Swaroop, M. Kane, I. Kurth, 2009, The Journal of Biological Chemistry.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency

Z. Lukacs, R. Santer, A. Gal, 2005, Journal of Inherited Metabolic Disease.

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

H. Ropers, H. Bokhoven, J. Fryns, 2000, Nature Genetics.

Pediatric Fabry Disease

J. Dambrosia, R. Schiffmann, R. Brady, 2005, Pediatrics.

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

S. Jacobson, D. Vollrath, Yun Li, 2000, Nature Genetics.

Carrier detection in X‐linked ocular albinism of the Nettleship‐Falls type by DNA analysis

G. Ommen, A. Gal, E. Bleeker-Wagemakers, 1992, Clinical genetics.

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.

A. Bergen, A. Gal, C. Samanns, 1990, Ophthalmic paediatrics and genetics.

Ring Y chromosome: cytogenetic and molecular characterization

R. Wegner, G. Scherer, D. L'Allemand, 1992, Clinical genetics.

A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15

G. Neri, W. Schempp, U. Wolf, 1985, Human Genetics.

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

S. Jacobson, B. Koop, D. Birch, 2000, Nature Genetics.

Neurological manifestation of Fabry disease in females.

K. Wendrich, A. Gal, M. Ries, 2001, Contributions to nephrology.

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

A. Roscher, A. Gal, E. Maier, 2006 .

Disease manifestations and X inactivation in heterozygous females with Fabry disease

A. Roscher, A. Gal, M. Ries, 2006, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Clinical manifestation in female Fabry disease patients.

K. Wendrich, A. Gal, M. Ries, 2001, Contributions to nephrology.

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases

Debra Thompson, A. Gal, Debra Thompson, 2003, Progress in Retinal and Eye Research.

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Birgit Lorenz, Michael J. Denton, Ulrich Finckh, 1997, Nature Genetics.

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins

M. Haasemann, T. Meitinger, A. Meindl, 1992, Nature Genetics.

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.

I. Kurth, C. Hübner, M. Hentschke, 2006, The Biochemical journal.

Organization of the canine gene encoding the E isoform of retinal guanylate cyclase (cGC-E) and exclusion of its involvement in the inherited retinal dystrophy of the Swedish Briard and Briard-beagle dogs.

A. Gal, S. Nilsson, A. Veske, 1998, Biochimica et biophysica acta.

A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.

S. Jablonka, K. Kutsche, A. Gal, 2002, Genomics.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

G. Nürnberg, P. Nürnberg, V. Timmerman, 2009, Nature Genetics.

Three novel PAX6 mutations in patients with aniridia

W. Zumkeller, A. Gal, U. Orth, 2003, Molecular pathology : MP.

A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

M. Tamai, A. Gal, M. Nakazawa, 1995, Nature Genetics.

Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.

U. Wolfrum, H. Bolz, J. Reiners, 2002, Advances in experimental medicine and biology.

Mucopolysaccharidosis type II in females: case report and review of literature.

O. Bodamer, A. Gal, K. Tuschl, 2005, Pediatric neurology.

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

M. Seeliger, H. Bolz, A. Ramírez, 2001, Nature genetics.

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

K. Steel, M. Ptok, U. Zimmermann, 2015, Orphanet Journal of Rare Diseases.

Plexin B3 is genetically associated with verbal performance and white matter volume in human brain

D. Rujescu, I. Giegling, H. Möller, 2007, Molecular Psychiatry.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

T. Wienker, A. Gal, D. Frey, 1986, Human Genetics.

Choroideremia-locus maps between DXS3 and DXS11 on Xq

T. Wienker, A. Gal, W. Hammerstein, 1986, Human Genetics.

Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2

R. Nitsch, C. Hock, G. Binetti, 2003, Neurogenetics.

Identification of three novel mutations in the USH1C gene and detection of thirty‐one polymorphisms used for haplotype analysis

C. Petit, S. Blanchard, A. Gal, 2001, Human mutation.

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

J. Mandel, E. Schwinger, A. Gal, 1994, Human molecular genetics.

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

S. Mundlos, A. Wilkie, E. Klopocki, 2009, Nature Genetics.

Isolation of a candidate gene for Norrie disease by positional cloning

A. Monaco, T. Meitinger, B. Lorenz, 1992, Nature Genetics.

Gene for non-specific X-linked mental retardation maps in the pericentromeric region.

G. Neri, A. Gal, C. Samanns, 1991, American journal of medical genetics.

Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome.

A. Gal, E. Bleeker-Wagemakers, I. Zweije-Hofman, 1988, Ophthalmic paediatrics and genetics.

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

S. Daiger, L. Sullivan, A. Gal, 1996, Human Genetics.

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.

T. Rosenberg, M. Schwartz, A. Gal, 1996, Human molecular genetics.

Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.

M. Tamai, A. Gal, M. Nakazawa, 1996, Archives of ophthalmology.

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

R. Nitsch, G. Binetti, L. Benussi, 2000, Neurology.

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

R. Nitsch, C. Hock, G. Binetti, 2000, American journal of human genetics.

European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families

J. Weissenbach, H. Cann, R. Vossen, 1996, Annals of human genetics.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

A. Ballabio, I. Lerer, G. Rosenberger, 2006, American journal of human genetics.

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 2004, Human Genetics.

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.

H. Ropers, B. Wieringa, D. Smeets, 1986, Cytogenetics and cell genetics.

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

C. P. Morris, H. Scott, E. Schwinger, 1994, Human molecular genetics.

Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

B. Poorthuis, W. Kleijer, A. Tylki-Szymańska, 1997, Human mutation.

Two different genes for X-linked retinitis pigmentosa.

B. Wirth, M. V. van Schooneveld, J. Donald, 1988, Genomics.

Multipoint linkage analysis in X‐linked juvenile retinosclusis

A. Bergen, A. Gal, E. Bleeker-Wagemakers, 1993, Clinical genetics.

p.Gln200Glu, a putative constitutively active mutant of rod α‐transducin (GNAT1) in autosomal dominant congenital stationary night blindness

T. Rosenberg, A. Gal, H. Kreienkamp, 2007, Human mutation.

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

S. Jacobson, M. Othman, D. Vollrath, 2002, American journal of human genetics.

Mice with a Targeted Disruption of the Cl−/HCO3− Exchanger AE3 Display a Reduced Seizure Threshold

T. Seidenbecher, M. Wiemann, T. Jentsch, 2006, Molecular and Cellular Biology.

The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.

E. Schwinger, P. Humphries, H. Laqua, 1992, American journal of human genetics.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis

J. Matschke, K. Püschel, A. Gal, 2000, International Journal of Legal Medicine.

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11.

E. Schwinger, H. Laqua, A. Gal, 1992, American journal of ophthalmology.

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Shinsei Minoshima, Stylianos E. Antonarakis, Kazunori Shibuya, 2001, Nature Genetics.

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

J. Dipierri, A. Gal, P. Rozenfeld, 2014, Molecular genetics and metabolism reports.

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

C. P. Morris, E. Schwinger, J. Hopwood, 1993, Human molecular genetics.

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

M. Fardeau, J. Gouyon, N. Dahl, 1995, American journal of human genetics.

The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome)

T. Braulke, C. Mühlhausen, A. Gal, 2008, Human mutation.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Amna Z. Shah, C. Ponting, A. Swaroop, 2007, American journal of human genetics.

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

M. López-Martínez, A. Gal, I. Rau, 2013, European journal of medical genetics.

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.

J. Ott, C. Dubay, G. Fishman, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Thirty‐four novel mutations of the GLA gene in 121 patients with Fabry disease

A. Mehta, G. Sunder-Plassmann, P. Deegan, 2005, Human mutation.

Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp

A. Gal, A. von der Wense, P. Meinecke, 2002, Cytogenetic and Genome Research.

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

U Orth, W. Engel, E. Schwinger, 1996, Journal of medical genetics.

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.

B. Zabel, E. Schwinger, J. Hopwood, 1992, American journal of medical genetics.

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

E. Schwinger, J. Hopwood, A. Gal, 1992, Human molecular genetics.

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

M. Hims, D. Hunt, T. Rosenberg, 2002, Human molecular genetics.

Autosomal recessive retinitis pigmentosa locusRP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family

C. Srikumari, A. Gal, M. Denton, 1999, Journal of medical genetics.

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

M. Henneke, C. Hübner, M. Natowicz, 2006, Clinical chemistry.

Genetic defects in vitamin A metabolism of the retinal pigment epithelium.

Debra Thompson, A. Gal, 2003, Developments in ophthalmology.

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

J. Hopwood, W. Kleijer, A. Gal, 1997, Human mutation.

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation

J. Hopwood, A. Gal, S. Bunge, 1994, Prenatal diagnosis.

Gene diagnosis and carrier detection in hunter syndrome by the iduronate-2-sulphatase cDNA probe

C. P. Morris, A. Sewell, E. Schwinger, 1992, Journal of Inherited Metabolic Disease.

Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

H. Bolz, K. Rüther, U. Fischer, 2014, PloS one.

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

A. Czeizel, K. Kutsche, A. Gal, 2004, Genomics.

Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3.

S. Seuchter, A. Gal, C. Samanns, 1990, American journal of medical genetics.

X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq

T. Wienker, H. Ropers, P. Wieacker, 2004, Human Genetics.

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

H. Scott, J. Hopwood, A. Gal, 1995 .

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

C. P. Morris, H. Scott, J. Hopwood, 1995, Human mutation.

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Winston A Hide, S. Daiger, S. Bowne, 1999, Nature Genetics.

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

G. Ommen, A. Bergen, A. Gal, 1991, Human Genetics.

Gene diagnosis in X-linked ichthyosis

B. Wirth, T. Kruse, K. Wulff, 2004, Archives of Dermatological Research.

Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Clinical genetics.

Short stature in a mother and daughter with terminal deletion of Xp22.3.

E. Schwinger, A. Gal, U. Orth, 1996, American journal of medical genetics.

Jumping translocation in a phenotypically normal female

E. Schwinger, D. David, M. Boavida, 1996, Clinical genetics.

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

W. Sly, R. Froissart, P. Natale, 2006, European Journal of Human Genetics.

Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.

P T de Jong, L I van den Born, M J van Schooneveld, 1994, Ophthalmic genetics.

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations

W. Kleijer, A. Gal, S. Bunge, 1999, Journal of medical genetics.

Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene

E. Schwinger, J. Hopwood, A. Gal, 1993, Human Genetics.

A 45,X male with a Yp/18 translocation

J. Weissenbach, W. Schempp, M. Fraccaro, 1986, Human Genetics.

Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α‐L‐iduronidase gene

E. Schwinger, W. Kleijer, A. Gal, 1995 .

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

T. Rosenberg, E. Schwinger, W. Baehr, 1994, Nature genetics.

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

E. Schwinger, W. Kleijer, A. Gal, 1995, Human mutation.

Mutations of the iduronate‐2‐sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome)

E. Schwinger, A. Tylki-Szymańska, A. Gal, 1995, Human mutation.

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28

E. Schwinger, A. Gal, S. Bunge, 2004, Human Genetics.

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6

H. Bolz, A. Gal, C. Kothe, 2004, Hearing Research.

A 45,X male with Y-specific DNA translocated onto chromosome 15.

D. Page, G. Neri, W. Schempp, 1987, American journal of human genetics.

Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.

M. Cremer, M. Genuardi, G. Neri, 1994, American journal of medical genetics.

Mutations in the candidate gene for Norrie disease.

T. Meitinger, M. Warburg, A. Meindl, 1992, Human molecular genetics.

Further RFLPs at the human tyrosine hydroxylase locus.

J. Mallet, P. Propping, A. Gal, 1988, Nucleic acids research.

Animal Cytogenetics and Comparative Mapping

A. Gal, K. Kutsche, 2002 .

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

A. D. den Hollander, F. Cremers, Ahmed Sadeque, 2009, Molecular vision.

Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium

H. Nothwang, A. Gal, T. Goecke, 2001, Cytogenetic and Genome Research.

Advanced renal insufficiency in a 34-year-old man with Lowe syndrome.

K. Lopau, E. Heidbreder, C. Wanner, 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.

A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita

W. Hoeppner, M. Quinkler, A. Gal, 2017, Endocrinology, diabetes & metabolism case reports.

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].

C. Keilhauer, J. Zimmermann, A. Gal, 2007, Klinische Monatsblatter fur Augenheilkunde.

A Y/5 translocation in a 45,X male with cri du chat syndrome

W. Schempp, A. Gal, U. Orth, 1987, Human Genetics.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

F. Wagner, P. Frommolt, G. Nürnberg, 2011, American journal of human genetics.

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1

U. Finckh, J. Colombo, A. Gal, 1998, Human mutation.

No association between DCP1 genotype and late-onset Alzheimer disease.

R. Nitsch, G. Binetti, A. Alberici, 2002, American journal of medical genetics.

Missense rhodopsin mutation in a family with recessive RP

C. Srikumari, A. Gal, U. Orth, 1994, Nature Genetics.

Erratum: Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness (Nature Genetics (1994) 7 (64-68))

T. Rosenberg, E. Schwinger, W. Baehr, 1994 .

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Human Genetics.

No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families

A. Gal, C. Samanns, M. Denton, 2004, Human Genetics.

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

S. Bhattacharya, F. Mansergh, P. Humphries, 1993, Human molecular genetics.

EXTENSIVE GENETIC HETEROGENEITY IN AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA

S. Bhattacharya, C. Inglehearn, P. Hargrave, 1993 .

Rhodopsin mutations in inherited retinal dystrophies and dysfunctions

A. Janecke, E. Apfelstedt-Sylla, A. Gal, 1997, Progress in Retinal and Eye Research.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

B. Lorenz, T. Rosenberg, S. Feil, 2008, Molecular vision.

Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q

T. Rosenberg, A. Gal, Su-ying Xu, 1998, Human Genetics.

Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.

E. Schwinger, A. Bergen, P. Humphries, 1992, Genomics.

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

P. Sieving, S. Jacobson, B. Lorenz, 2000, Investigative ophthalmology & visual science.

Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the Ser 186TRP Mutation of Rhodopsin

E. Zrenner, K. Rüther, S. Kremmer, 1995 .

Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.

J. Millán, A. Gal, H. Wedemann, 1995, Molecular and Cellular Probes.

αPIX Associates with Calpain 4, the Small Subunit of Calpain, and Has a Dual Role in Integrin-mediated Cell Spreading*

G. Rosenberger, K. Kutsche, A. Gal, 2005, Journal of Biological Chemistry.

Interaction of αPIX (ARHGEF6) with β-parvin (PARVB) suggests an involvement of αPIX in integrin-mediated signaling

G. Rosenberger, K. Kutsche, A. Gal, 2003 .

Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey.

G. Houge, A. Mehta, A. Schwarting, 2005, Kidney international.

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.

S. Antonarakis, H. Scott, A. Mohyuddin, 2000, Advances in oto-rhino-laryngology.

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

B. Müller-Myhsok, A. Mohyuddin, A. Gal, 1996, Human molecular genetics.

Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.

F. Martínez, F. Palau, A. Gal, 1995, American journal of medical genetics.

Ccdc66 null mutation causes retinal degeneration and dysfunction.

J. Kremers, T. Rülicke, R. Dermietzel, 2011, Human molecular genetics.

Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease.

T. Mohandas, N. Lan, E. Lai, 1989, Genomics.

[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy].

H. Laqua, A. Gal, U. Orth, 2008, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

Mutationen des Frizzled-4-Gens

H. Laqua, M. Müller, A. Gal, 2007, Der Ophthalmologe.

Prenatal molecular diagnosis of L1‐spectrum disorders

U. Finckh, A. Gal, 2000, Prenatal diagnosis.

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.

J. Schröder, A. Gal, U. Orth, 1997, American journal of medical genetics.

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa

B. Lorenz, A. Lennon, A. Wright, 1998, The Lancet.

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

J. Schröder, U. Finckh, A. Gal, 2000, American journal of medical genetics.

Intronic mutations in the L1CAM gene may cause X‐linked hydrocephalus by aberrant splicing

S. Tinschert, C. Hübner, A. Schinzel, 2004, Human mutation.

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

T. Rosenberg, H. Eiberg, E. Schwinger, 1994, Human molecular genetics.

First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.

R. Axt‐Fliedner, E. Schwinger, Juliane Eckhold, 2006, Reproductive biomedicine online.

Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.

U Orth, E. Schwinger, H. Laqua, 1994, Genomics.

The genetic basis of Fabry disease

A. Gal, I. Rohard, Ellen Schäfer, 2006 .

Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation

A. Gal, 2010 .

Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

E. Zrenner, K. Rüther, E. Apfelstedt-Sylla, 1992, German journal of ophthalmology.

[Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity].

T. Meitinger, E. Schwinger, A. Schinzel, 1991, Fortschritte der Ophthalmologie : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

E. Zrenner, H. Gerding, K. Rüther, 1993, The British journal of ophthalmology.

Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

E. Zrenner, K. Rüther, E. Apfelstedt-Sylla, 1993 .

Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa Due to a 3-Base Pair Deletion at Codon 255/256 of the Human Rhodopsin Gene

B. Lorenz, A. Gal, M. Horn, 1993 .

Phenotypes of female adrenoleukodystrophy

F. Heppner, K. Landau, H. Jung, 2007, Neurology.

Impaired calmodulin binding of myosin‐7A causes autosomal dominant hearing loss (DFNA11)

H. Bolz, S. Bolz, A. Gal, 2004, Human mutation.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency)

B. Wirth, M. Ferguson-Smith, K. Figura, 1988, Human Genetics.

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.

B. Wittwer, J. Leutelt, A. Gal, 1996, American journal of medical genetics.

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.

B. Lorenz, M. Preising, A. Gal, 2000, Investigative ophthalmology & visual science.

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

E. Zrenner, K. Rüther, E. Apfelstedt-Sylla, 1995, The British journal of ophthalmology.

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

E. Zrenner, A. Gal, F. Prieto, 1994, Human mutation.

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

I. Ebermann, H. Bolz, A. Gal, 2005, Molecular vision.

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

J. Corbo, E. Zrenner, Silvio Alessandro Di Gioia, 2010, American journal of human genetics.

ERG Findings in Two Patients with Autosomal Dominant Congenital Stationary Night Blindness and His258Asn Mutation of the β-Subunit of Rod Photoreceptor CGMP-Specific Phosphodiesterase

T. Rosenberg, A. Gal, S. E. Simonsen, 1995 .

Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome).

A. Gal, F. Prieto, M. Beneyto, 1991, American journal of medical genetics.

Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.

J. Weber, U. Finckh, A. Gal, 1998, Genomics.

Hereditary Retinal Dystrophy of Swedish Briard Dogs

K. Narfström, D. Sargan, U. Finckh, 1997 .

Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease

A. Gal, E. Schaefer, C. Kampmann, 2008, Journal of Inherited Metabolic Disease.

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital‐spectrum disorder with a variable, intermediate phenotype

H. Bolz, A. Gal, P. Meinecke, 2005, American journal of medical genetics. Part A.

Clinical, radiological and genetic aspects of leukodystrophies.

A. Kelemen, P. Barsi, A. Gal, 2010, Ideggyógyászati Szemle.

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling.

G. Rosenberger, K. Kutsche, A. Gal, 2003, Human molecular genetics.

The Autosomal Dominant Familial Exudative Vitreoretinopathy Locus Maps on I I q and Is Closely Linked to DI I S533

E. Schwinger, A. Gal, Peter, 2006 .

L1CAM mutation in a boy with hydrocephalus and duplex kidneys

H. Omran, M. Liebau, A. Superti-Furga, 2007, Pediatric Nephrology.

Clinical utility gene card for: Fabry disease – update 2016

A. Gal, D. Germain, M. Beck, 2017, European Journal of Human Genetics.

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

I. Craig, A. Schinzel, T. Kruse, 1989, Human Genetics.

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

B. Grammatico, G. del Porto, A. Gal, 2009, Acta ophthalmologica Scandinavica. Supplement.

Missense mutation (Arg121Trp) in the norrie disease gene associated with X‐linked exudative vitreoretinopathy

U. Kellner, A. Gal, H. Wedemann, 1995, Human mutation.

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

E. Zrenner, P. Humphries, C. Marchese, 1992, Human Genetics.

The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment

A. Gal, K. Kutsche, 2002, Cytogenetic and Genome Research.

Genotype–phenotype correlation in Fabry disease

A. Gal, M. Ries, 2006 .

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

T. Braulke, J. Hopwood, S. Storch, 2004, Human mutation.

Clinical utility gene card for: Mucopolysaccharidosis type II

A. Gal, F. Wijburg, M. Beck, 2011, European Journal of Human Genetics.

Anderson-Fabry disease in children and adolescents.

K. Wendrich, A. Gal, M. Ries, 2001, Contributions to Nephrology.

Late manifestation of autosomal-recessive polycystic kidney disease in two sisters.

B. Wirth, K. Zerres, H. Neumann, 1988, American journal of nephrology.

Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.

F. Hildebrandt, T. Feest, A. Pierides, 1998, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Three sequence polymorphisms in the PDC gene.

S. Bhattacharya, F. Mansergh, P. Humphries, 1994, Human molecular genetics.

Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.

J. Ott, E. Schwinger, L. I. van den Born, 1993, Genomics.

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.

M. Salcedo, A. Gal, H. Wedemann, 1994, Human molecular genetics.

Oguchi disease: suggestion of linkage to markers on chromosome 2q.

S. Jablonka, A. Gal, R. Oehlmann, 1995, Journal of medical genetics.

The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome)

T. Braulke, C. Mühlhausen, A. Gal, 2008, Human mutation.

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and GIn344stop mutations of rhodopsin

K. Rüther, S. Kremmer, A. Gal, 1997, Graefe's Archive for Clinical and Experimental Ophthalmology.

X-linked megalocornea. Ocular findings and linkage analysis.

F. Meire, A. Gal, E. Bleeker-Wagemakers, 1991, Ophthalmic paediatrics and genetics.

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

A. D. den Hollander, F. Cremers, Ahmed Sadeque, 2009, Molecular vision.

Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene

A. Schinzel, A. Gal, G. Niemeyer, 2004, Documenta Ophthalmologica.

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

B. Wissinger, B. Fiebig, S. Kohl, 2009, American journal of ophthalmology-glaucoma.

Posthumous diagnosis of X-linked retinoschisis using DNA analysis.

M. V. van Schooneveld, A. Gal, E. Bleeker-Wagemakers, 1990, Ophthalmic Paediatrics and Genetics.

Further linkage studies between retinoschisis and cloned dna sequences from the distal xp

H. Willard, S. Latt, T. Wienker, 1985 .

Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the GLY-188-ARG Mutation of the Rhodopsin Gene

E. Vingolo, M. Pannarale, A. Iannaccone, 1993 .