M. Kukolich

发表

A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.

R. Kapur, F. Luthardt, J. Evans, 1995, Human molecular genetics.

Tetraploidy: a report of three live-born infants.

A. Carroll, J. Hersh, M. Kukolich, 1984, American journal of medical genetics.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.

S. Scherer, E. Wijsman, L. Tsui, 1994, American journal of human genetics.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Ye Htet Aung, S. Berkovic, S. Petrou, 2019, Annals of clinical and translational neurology.

Sudden infant death syndrome: normal QT interval on ECGs of relatives.

A. Motulsky, A. Telsey, M. Kukolich, 1977, Pediatrics.

Disease associated balanced chromosome rearrangements (DBCR): report of two new cases.

V. Tonk, D. Morgan, H. Wyandt, 2003, Annales de genetique.

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

A. Lin, M. Adam, K. Keppler-Noreuil, 2013, American journal of medical genetics. Part A.

Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

M. Hurles, J. Schuurs-Hoeijmakers, B. D. de Vries, 2016, American journal of medical genetics. Part A.

Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly.

Golder N Wilson, V. Tonk, N. Schneider, 1995, American journal of medical genetics.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.

J. Belmont, M. Kukolich, A. Kulharya, 1995, American journal of medical genetics.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

Complete trisomy 17p a relatively new syndrome.

L. Larson, S. Jalal, M. Kukolich, 1988, Annales de genetique.

Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2‐year follow‐up and a brief review of other prenatal cases of partial trisomy 6q

M. Huslig, M. Kukolich, M. Carlin, 1997, Clinical genetics.

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

J. Wiszniewska, A. C. Chinault, Ankita Patel, 2008, American journal of medical genetics. Part A.

Mutation analysis of UBE3A in Angelman syndrome patients.

J. Graham, R. Pagon, A. Moncla, 1998, American journal of human genetics.

Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

C. Mankinen, A. Tharapel, M. Kukolich, 1984, Journal of medical genetics.

Trisomy 22: no longer an enigma.

S. Jalal, M. Kukolich, A. Kulharya, 1989, American journal of medical genetics.

De novo partial duplications 1p: report of two new cases and review.

M. Kukolich, D. Day, M. García, 1999, American journal of medical genetics.

Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.

N. Heerema, D. Weaver, H. Bender, 1984, American journal of medical genetics.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Partial deletion 10q

C. Mankinen, M. Kukolich, R. C. Lewandowski, 1978, Human Genetics.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

ARTERIAL OCCLUSION IN 47,XYY MALE

M. Kukolich, J. Hall, 1975, The Lancet.

Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p).

V. Tonk, M. Kukolich, S. M. Brown, 1999, Archives of ophthalmology.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

Euchromatic 16p+ heteromorphism: first report in North America.

Golder N Wilson, N. Schneider, G. Wilson, 1990, American journal of medical genetics.

Euchromatic 9q + heteromorphism in a family.

S. Jalal, M. Kukolich, D. Day, 1990, American journal of medical genetics.

Erratum: Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy 1pter→1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q (Clinical Genetics (1997) 51 (115-117))

M. Huslig, M. Kukolich, M. Carlin, 1997 .

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

Ring chromosome 8 syndrome: further characterization.

V. Tonk, D. Morgan, S. Jalal, 2000, American journal of medical genetics.

Familial translocation leading to partial trisomy 13: Report of three cases

S. A. Tharapel, M. Kukolich, R. C. Lewandowski, 1984, Indian journal of pediatrics.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

S. Ellard, C. Shaw-Smith, Xiang-Jiao Yang, 2020, HGG advances.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Michael F. Wangler, A. Need, S. Levy, 2018, Human molecular genetics.

Direct chromosome analysis from neonatal cord blood.

S. Jalal, M. Kukolich, D. Day, 1988, American journal of medical genetics.

Expanding the phenotypic spectrum of ARCN1-related syndrome.

H. Hakonarson, V. Shashi, B. Krock, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Tetrasomy 9p: an emerging syndrome

M. Kukolich, D. Day, S. Jalal, 1991, Clinical genetics.