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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Journal of medical genetics, 2008-11, Vol.45 (11), p.738-744

2008

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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

American journal of human genetics, 2001-01, Vol.68 (1), p.81-91

2001

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Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations

Cytogenetics and cell genetics, 1998, Vol.80 (1-4), p.188

1998

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Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

Clinical genetics, 2004-09, Vol.66 (3), p.189-207

2004

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Nijmegen breakage syndrome

Archives of disease in childhood, 2000-05, Vol.82 (5), p.400-406

The, I

2000

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Distortion products otoacoustic emissions in diagnosis of hearing loss in Down syndrome

International journal of pediatric otorhinolaryngology, 1998-10, Vol.45 (3), p.199-206

1998

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Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2

Advances in medical sciences, 2009-12, Vol.54 (2), p.203-210

2009

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Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

Clinical genetics, 2000-08, Vol.58 (2), p.153-155

2000

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Experiences with risk estimates for carriers of chromosomal reciprocal translocations

Clinical genetics, 1992-03, Vol.41 (3), p.113-122

1992

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Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother

Clinical genetics, 1997-08, Vol.52 (2), p.120-125

1997

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Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo

Genetic counseling, 2006, Vol.17 (2), p.211

2006

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Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome

American journal of medical genetics, 2004-01, Vol.124A (2), p.179-191

2004

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Construction of a Detailed Physical and Transcript Map of the Candidate Region for Russell–Silver Syndrome on Chromosome 17q23–q24

Genomics (San Diego, Calif.), 2001-01, Vol.71 (2), p.174-181

2001

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Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia

Folia histochemica et cytobiologica, 2001, Vol.39 (2), p.113

2001

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Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability

Advances in medical sciences, 2007, Vol.52 Suppl 1, p.166-170

2007

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A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up

Genetic counseling, 2005, Vol.16 (1), p.17

2005

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Immortalization and characterization of Nijmegen Breakage Syndrome fibroblasts

Mutation research, 1999-05, Vol.434 (1), p.17-27

1999

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Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study

Application of clinical genetics, 2021-01, Vol.14, p.389-398

2021

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Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome

Genetic counseling, 2005, Vol.16 (1), p.31

2005

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Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

Clinical genetics, 1993-07, Vol.44 (1), p.53-55

1993

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Familial occurrence of isodicentric X chromosomes with different breakpoints

Clinical genetics, 1988-09, Vol.34 (3), p.153-160

1988

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Molecular study of 33 families with Fraser syndrome new data and mutation review

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2252-2257

2008

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Floating Harbor syndrome. Case report and further syndrome delineation

Annales de génétique, 1997, Vol.40 (3), p.133

1997

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Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa

American journal of medical genetics. Part A, 2006-02, Vol.140A (3), p.245-256

2006

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Different risks in two familial translocations t(9;12) with similar breakpoints

Annales de génétique, 1992, Vol.35 (1), p.33

1992

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

Nijmegen breakage syndrome

Distortion products otoacoustic emissions in diagnosis of hearing loss in Down syndrome

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2

Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

Experiences with risk estimates for carriers of chromosomal reciprocal translocations

Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother

Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo

Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome

Construction of a Detailed Physical and Transcript Map of the Candidate Region for Russell–Silver Syndrome on Chromosome 17q23–q24

Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia

Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability

A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up

Immortalization and characterization of Nijmegen Breakage Syndrome fibroblasts

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

Familial occurrence of isodicentric X chromosomes with different breakpoints

Molecular study of 33 families with Fraser syndrome new data and mutation review

Floating Harbor syndrome. Case report and further syndrome delineation

Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa

Different risks in two familial translocations t(9;12) with similar breakpoints

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