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Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics

Audiology research (Pavia, Italy), 2023-11, Vol.13 (6), p.939-941

2023

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Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

American journal of medical genetics. Part A, 2005-12, Vol.139A (3), p.212-215

2005

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Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

Journal of investigative dermatology, 2001-05, Vol.116 (5), p.728-730

2001

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Silver-Russell syndrome following in vitro fertilization

Pediatric and developmental pathology, 2008-07, Vol.11 (4), p.329-331

2008

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KBG syndrome in a cohort of Italian patients

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.144-149

2004

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Familial transposition of the great arteries caused by multiple mutations in laterality genes

Heart (British Cardiac Society), 2010-05, Vol.96 (9), p.673-677

2010

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Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

American journal of human genetics, 2002-08, Vol.71 (2), p.389-394

2002

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Disomy of distal Xq in males: Case report and overview

American journal of medical genetics. Part A, 2004-07, Vol.128A (2), p.165-169

2004

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The internet user profile of Italian families of patients with rare diseases: a web survey

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.76-76, Article 76

2013

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Survey of medical genetic services in Italy: year 2011

BMC health services research, 2016-03, Vol.16 (95), p.96-96, Article 96

2016

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The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

American journal of medical genetics. Part A, 2011-03, Vol.155A (3), p.459-465

2011

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A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

Human mutation, 2004-03, Vol.23 (3), p.286-286

2004

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LEOPARD syndrome: Clinical diagnosis in the first year of life

American journal of medical genetics. Part A, 2006-04, Vol.140A (7), p.740-746

2006

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TBX2 gene duplication associated with complex heart defect and skeletal malformations

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.2061-2066

2010

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Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2867-2870

2009

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Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

Clinical dysmorphology, 2009-10, Vol.18 (4), p.205-208

2009

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Antenatal presentation of the oculo‐auriculo‐vertebral spectrum (OAVS)

American journal of medical genetics. Part A, 2006-07, Vol.140A (14), p.1573-1579

2006

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Genetic prediction of common complex disorders assessed by next generation sequencing and genome wide analysis

Italian Journal of Public Health, 2012-01, Vol.9 (4)

2012

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3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1777-1781

2009

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A nationwide genetic testing survey in Italy, year 2007

Genetic testing and molecular biomarkers, 2010-02, Vol.14 (1), p.17-22

2010

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Complex Rearrangement of Chromosome 7q21.13-q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

American journal of medical genetics. Part A, 2008-01, Vol.146 (2), p.238-244

2008

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Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.546-548

2009

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Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2937-2943

2007

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Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2116-2121

2008

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Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man

International journal of cardiology, 2010-10, Vol.144 (2), p.300-302

2010

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Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

Silver-Russell syndrome following in vitro fertilization

KBG syndrome in a cohort of Italian patients

Familial transposition of the great arteries caused by multiple mutations in laterality genes

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

Disomy of distal Xq in males: Case report and overview

The internet user profile of Italian families of patients with rare diseases: a web survey

Survey of medical genetic services in Italy: year 2011

The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

LEOPARD syndrome: Clinical diagnosis in the first year of life

TBX2 gene duplication associated with complex heart defect and skeletal malformations

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

Antenatal presentation of the oculo‐auriculo‐vertebral spectrum (OAVS)

Genetic prediction of common complex disorders assessed by next generation sequencing and genome wide analysis

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

A nationwide genetic testing survey in Italy, year 2007

Complex Rearrangement of Chromosome 7q21.13-q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man

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